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Paper Citation Record · LEDGER

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization

As of 5 August 2026, this Paper Citation Record lists 50 of 50 outbound references and 1 inbound Pith citation observation for arXiv:2605.06226.

A citation records a reference. It does not transfer a finding from one paper to another.

pith.paper-citation-record.v1
2605.06226 v2

Coverage vector

measured 50 of 50 reference resolution

Typed states for the displayed outbound observations.

Source: paper_references, paper_reference_links, observed 2026-05-12T03:37:06.009960Z

measured 51 of 51 standing notices

One-hop event checks from named stored sources.

Source: scholarly_work_events, retraction_status_cache, observed 2026-08-05T06:32:48.257954+00:00

measured 1 of 1 inbound itemization

Pith citing papers itemized under the disclosed page cap.

Source: paper_references, paper_reference_links, observed 2026-06-25T21:30:52.792801Z

measured 0 of 1 external citation measurements

A source-named dated measurement, never combined with another source.

Source: pith, observed 2026-07-04T19:20:06.618849Z

Reference resolution

50 of 50 outbound references displayed

  • verified exact7
  • verified fuzzy39
  • unresolved2
  • parse uncertain0
  • malformed identifier1
  • metadata mismatch1

External citation measurements

No source-named external measurement is stored.

Outbound references

Observation fb9a9cd2-7024-40cc-a7e9-e22675395064 · outbound

This paper cites Public health and rare diseases: oxymoron no more.Preventing chronic disease, 13:E05.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Public health and rare diseases: oxymoron no more.Preventing chronic disease, 13:E05

Reference 1

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.482499Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:d826d710a38f909b8ed246eee654140e99b9a82071ea854df811e51b83333a47

Observation ef88f707-a26a-48b1-8ce7-0a6aa9d68a4f · outbound

This paper cites Estimatingcumulative pointprevalenceofrarediseases: analysisoftheorphanetdatabase.Europeanjournalofhuman genetics, 28(2):165–173.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Estimatingcumulative pointprevalenceofrarediseases: analysisoftheorphanetdatabase.Europeanjournalofhuman genetics, 28(2):165–173

Reference 2

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.490483Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:af48a7654b31764b30e99f70084330eafdeb9b8f3d2addc3f714b1970532d351

Observation 90ace1f3-b0cf-4f5e-b847-2bf370c83393 · outbound

This paper cites Hope for a rare disease: eculizumab in neuromyelitis optica.The Lancet Neurology, 12(6):529–531.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Hope for a rare disease: eculizumab in neuromyelitis optica.The Lancet Neurology, 12(6):529–531

Reference 3

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.616279Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:c3e1abe3da22f474d434db85cd1c14112f7188c3167f435e15c4deda79750c8d

Observation db827a03-25a4-4427-a382-ef25dc829ea3 · outbound

This paper cites Access in the rare diseases landscape.The Lancet Global Health, 12(10):e1587.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Access in the rare diseases landscape.The Lancet Global Health, 12(10):e1587

Reference 4

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.502766Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:d4d97d08b9a65d53c8f4906d0ea7c248d57ece6b53e7050f1e1c96241f51e3a0

Observation 82ab7835-7118-4d40-a643-c5e2bad22d81 · outbound

This paper cites An agentic system for rare disease diagnosis with traceable reasoning.Nature.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization An agentic system for rare disease diagnosis with traceable reasoning.Nature

Reference 5

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.511040Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:297a9235336245b9127f471bbfda374923a437971f133b1e843526f35a01a6a6

Observation 89414f41-979f-4c96-ae96-f3c90214d2ac · outbound

This paper cites Artificial intelligence in rare disease diagnostics: Shortening the path to early detection.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Artificial intelligence in rare disease diagnostics: Shortening the path to early detection

Reference 6

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.603817Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:533e7f63fdcbfd98ca89d2c330be2c09c0071dfedb6dfd79d036a0a032da4507

Observation 655034ec-fc31-4228-a122-0fa5797d00f5 · outbound

This paper cites an unresolved cited work.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Unresolved cited work

Reference 7

Resolution
unresolved
raw_fallback, observed 2026-05-12T18:56:47.473826Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:2fef5cfba23c6b4282524581c4f0a4b5648c82d15112a04bf48793e7af4e1a36

Observation 39a3e08e-578c-4719-8802-111b3749a412 · outbound

This paper cites Deeplearningforraredisease: Ascopingreview.Journal of biomedical informatics, 135:104227.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Deeplearningforraredisease: Ascopingreview.Journal of biomedical informatics, 135:104227

Reference 8

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.478505Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:be7208d526934350b181ad06814e9217cb8a29dfe2c2282f0286e146c1bd16a0

Observation af9cf4ef-d99c-447e-816e-b1699a66e481 · outbound

This paper cites an unresolved cited work.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Unresolved cited work

Reference 9

Resolution
unresolved
raw_fallback, observed 2026-05-12T18:56:47.535732Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:dbf3f337a9b8a609cd80c248a1b9ea0204ab1a0481f48c5fbff798ba07117b0c

Observation e60071c2-8f58-46ee-a63a-445d32d9c36d · outbound

This paper cites Large language models in medicine.Nature medicine, 29(8):1930–1940.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Large language models in medicine.Nature medicine, 29(8):1930–1940

Reference 10

Resolution
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raw_fallback, observed 2026-05-12T18:56:47.531887Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:4f9e8d5c019c7774cb6d375d595f7a75699a805574308a0b18edb627c05698d2

Observation 904da7c8-e5a9-4596-8c2c-b06a58771982 · outbound

This paper cites Visual–language foundation models in medicine.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Visual–language foundation models in medicine

Reference 11

Resolution
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raw_fallback, observed 2026-05-12T18:56:47.507036Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:3355cb36ec4ff73d846eb0b5bb2b9eed053ae3cdfeca513efc6806d49fcc7eee

Observation 450481c3-e6ac-40f2-a03c-8faf31dad820 · outbound

This paper cites Natural language processing for digital health in the era of large language models.Yearbook of Medical Informatics, 33(01):229–240.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Natural language processing for digital health in the era of large language models.Yearbook of Medical Informatics, 33(01):229–240

Reference 12

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.612414Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:6a978518aea688c2ed57090d305a43faa96e53512971bb59725908c3e2c043ce

Observation 53f6d9a1-16e1-4973-8f75-364502fa06af · outbound

This paper cites Geneverse: A col- lection of open-source multimodal large language models for genomic and proteomic research.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Geneverse: A col- lection of open-source multimodal large language models for genomic and proteomic research

Reference 13

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.453307Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:5d21c2e64c46a1d73d905794b12272d12b637474c8ec6939d4ca7caef8f69d1f

Observation a2f1a6cf-fba9-47a7-9878-5de137790fc8 · outbound

This paper cites Multi-Agent Collaboration Mechanisms: A Survey of LLMs.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Multi-Agent Collaboration Mechanisms: A Survey of LLMs

Reference 14

Resolution
verified exact
arxiv_id, observed 2026-05-13T15:54:55.141401Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:494ec87a691e56b51e639f51ff34ce099f8adbd1c72a5a3d47aec66f7bfcdd32

Observation 8f03ec4f-3326-4949-9251-e70fc2d87176 · outbound

This paper cites Accelerating scientific discovery with autonomous goal-evolving agents.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Accelerating scientific discovery with autonomous goal-evolving agents

Reference 15

Resolution
verified exact
arxiv_id, observed 2026-05-12T07:11:27.000328Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:756e03ea3d7e7f11df06482710d389660fdd019caead3603ded70e32bcf8e974

Observation 0262004e-c5b1-4388-9675-3ef38a4c0395 · outbound

This paper cites Leveraging multi-modal foundation models for analysing spatial multi-omic and histopathology data.Nature Biomedical Engineering, pages 1–18.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Leveraging multi-modal foundation models for analysing spatial multi-omic and histopathology data.Nature Biomedical Engineering, pages 1–18

Reference 16

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verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.552604Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:c6e41cd8d52c7f421f8c39fa1ff58532da76b064e66455bc1f7c78c1c81417c5

Observation 72561c4c-357d-43aa-84ee-3942b770e506 · outbound

This paper cites TeamPath: Building MultiModal Pathology Experts with Reasoning AI Copilots.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization TeamPath: Building MultiModal Pathology Experts with Reasoning AI Copilots

Reference 17

Resolution
verified exact
local_arxiv, observed 2026-05-12T07:11:27.034581Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:fae117945d8591600bead505eef28f33f4c0b47ac7e374afe8e4c0015643cae6

Observation c59cc5f7-457d-49ac-b3bb-7c839790d698 · outbound

This paper cites Rarebench: can llms serve as rare diseases specialists? InProceedings of the 30th ACM SIGKDD conference on knowledge discovery and data mining, pages 4850–4861.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Rarebench: can llms serve as rare diseases specialists? InProceedings of the 30th ACM SIGKDD conference on knowledge discovery and data mining, pages 4850–4861

Reference 18

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.457638Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:5238e523b28778cc0d8f8d92f154e32d56aacf7f574e537495499ee273e552b9

Observation 65a404da-50aa-41ec-92b4-b99509dd728d · outbound

This paper cites Rarearena: a comprehensive benchmark dataset unveiling the potential of large language models in rare disease diagnosis.The Lancet Digital Health.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Rarearena: a comprehensive benchmark dataset unveiling the potential of large language models in rare disease diagnosis.The Lancet Digital Health

Reference 19

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.470285Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:009a81e37ab65a73a66cce948e8543553a77f44835de84f263419dfba3458e05

Observation 8d23d645-f209-4846-8ddc-c53dfb11b5da · outbound

This paper cites Visual- rag: Knowledge-guided retrieval augmentation for image-text matching.IEEE Transactions on Circuits and Systems for Video Technology.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Visual- rag: Knowledge-guided retrieval augmentation for image-text matching.IEEE Transactions on Circuits and Systems for Video Technology

Reference 20

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.494414Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:3baf23e26b7558dbb9607da0d74515c8f257dc2fb2ad23bc48bb967f714c7a84

Observation 653c17f0-fdb8-409c-9d66-3e9e2bdc890f · outbound

This paper cites Multi-agent sys- tem based medical diagnosis using particle swarm optimization in healthcare.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Multi-agent sys- tem based medical diagnosis using particle swarm optimization in healthcare

Reference 21

Resolution
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raw_fallback, observed 2026-05-12T18:56:47.564577Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:77b5e5d6c1ae64157b9f95775d3eb939dae9b1d8b1fa71b32bec13cac01b7ec7

Observation f5f10ae1-c3a6-409e-a568-8929b4a38f3a · outbound

This paper cites Enhancing diagnostic capability with multi-agents conversational large language models.NPJ digital medicine, 8(1):159.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Enhancing diagnostic capability with multi-agents conversational large language models.NPJ digital medicine, 8(1):159

Reference 22

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.569129Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:ba170b0eefb5631b1c89399d45edd6f0f40af1879ff1cb5f78dc0828ffe73e10

Observation 3871f730-d694-42d5-8b19-80721190797f · outbound

This paper cites Vc-rdagent: Anefficientrarediseasediagnosisagentviavirtual case construction informed by hybrid statistical-metric and hyperbolic-semantic prioritization.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Vc-rdagent: Anefficientrarediseasediagnosisagentviavirtual case construction informed by hybrid statistical-metric and hyperbolic-semantic prioritization

Reference 23

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.578965Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:083df38d2e1e3eb8777d35a8c71beceff55b4c4673366b3d219b3748ab84b8dd

Observation 61c4305f-d402-48cc-84f7-de0d07d8e3b3 · outbound

This paper cites Variant-level matching for diagnosis and discovery: Challenges and opportunities.Human mutation, 43(6):782–790.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Variant-level matching for diagnosis and discovery: Challenges and opportunities.Human mutation, 43(6):782–790

Reference 24

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.573738Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:8caed10fc16865b1b87ba1feef3d71ee02cef737194e1638e4454192e3a2cbfd

Observation cba6cf75-9641-41fc-91c5-eb9915a3977a · outbound

This paper cites Umap: Uniform manifold approximation and projection.Journal of Open Source Software, 3(29).

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Umap: Uniform manifold approximation and projection.Journal of Open Source Software, 3(29)

Reference 25

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.582950Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:8b7d7a544d7685ee942595968df521c4485cebb7d777ecb33e165a36fc554151

Observation 353a3080-ba0b-4c19-942c-557997239514 · outbound

This paper cites The un- diagnosed diseases network: accelerating discovery about health and disease.The American Journal of Human Genetics, 100(2):185–192.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization The un- diagnosed diseases network: accelerating discovery about health and disease.The American Journal of Human Genetics, 100(2):185–192

Reference 26

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.587075Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:49627aa3cfea8416bd117b852c32b67746e7b2896ca4313723aabd1847a50ec3

Observation d63c87e2-ae71-4397-92ba-7e47fb0d5759 · outbound

This paper cites Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases.npj Digital Medicine, 8(1):380.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases.npj Digital Medicine, 8(1):380

Reference 27

Resolution
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raw_fallback, observed 2026-05-12T18:56:47.591045Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:3fe8319090bbe64f3755fa2d386ea9bfa2d00010657858660aa5b7b5e15b4fc8

Observation c19b3337-83d4-4060-b892-6bf53f0acf4d · outbound

This paper cites Qwen3 Technical Report.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Qwen3 Technical Report

Reference 28

Resolution
verified exact
local_arxiv, observed 2026-05-12T07:11:27.015186Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:88782349f9716e9dffdbbe14d99b93151e4eeaf49e40b88ee9535c20891b55db

Observation 0669f2cf-baad-46aa-b9e2-c67d1f402993 · outbound

This paper cites Clinical research for rare disease: opportunities,challenges,andsolutions.Moleculargeneticsandmetabolism,96(1):20– 26.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Clinical research for rare disease: opportunities,challenges,andsolutions.Moleculargeneticsandmetabolism,96(1):20– 26

Reference 29

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.560847Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:101e7f1c86fff0fae243822a268d93453b1c11265f47e39171c81e84976b8366

Observation c2fab85e-1c32-4982-8e44-fd76fd6f949d · outbound

This paper cites Unmaskingkabukisyndrome.Clinicalgenetics, 83(3):201–211.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Unmaskingkabukisyndrome.Clinicalgenetics, 83(3):201–211

Reference 30

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.528152Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:fe17d5812c3fecf473b478d4adf8165b5282ec6f86290d76912e229b13611884

Observation 780f5aa3-6873-4246-91a5-11e536ae0d25 · outbound

This paper cites Causal machine learning for healthcare and precision medicine.Royal Society Open Science, 9(8):220638.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Causal machine learning for healthcare and precision medicine.Royal Society Open Science, 9(8):220638

Reference 31

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.515139Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:7c1d7475fba71285bedb46b55d5bb475dd616537143b2f1e9b2c727e5609546c

Observation 4721987e-5b57-4727-93e0-3d182f800cd3 · outbound

This paper cites Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Nature Reviews Genetics, 14(10):681–691.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Nature Reviews Genetics, 14(10):681–691

Reference 32

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.523131Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:dfa15380abb0aa8dedcb7efe3f5c3f78fdf9f835cf3bfcd1889f554763173ddb

Observation 07f5dc39-0944-4d17-a791-d07dd0feec25 · outbound

This paper cites Gpt-5systemcard.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Gpt-5systemcard

Reference 33

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.539490Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:c6f9ea4a6c83bb1b1ba56dc02af6655b728ef3b111e4c9ace66ef1022e51ef2a

Observation 42a86bfa-67d6-4b2b-8ee4-45acbe32676a · outbound

This paper cites Claude sonnet 4.5.https://www.anthropic.com/claude/sonnet.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Claude sonnet 4.5.https://www.anthropic.com/claude/sonnet

Reference 34

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.543448Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:ae9ccfc8a0ec9573d2a8d94ccdb5d4d1a503b9a40b194b6d68b717cd848e8acc

Observation 07b389cb-b654-465d-8491-ea62b7151f89 · outbound

This paper cites Biomni: A general-purpose biomedical ai agent.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Biomni: A general-purpose biomedical ai agent

Reference 35

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.548163Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:73426e341592e9a65b92f842ad5284f6343969162f8d86acc8ae0fae886b340c

Observation 23af5d94-5415-4939-b3f9-63b32d8b26fe · outbound

This paper cites The human phenotype ontology.Clinical genetics, 77(6):525–534.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization The human phenotype ontology.Clinical genetics, 77(6):525–534

Reference 36

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.594916Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:57e71dfea835225cdf7784827d6ff2a7731fa0f0e69a5ff3ccd62a51f8f23eb6

Observation 2cc60793-33f6-4b84-a63f-2f31681d790a · outbound

This paper cites Scikit- learn: Machine learning in python.the Journal of machine Learning research, 12:2825–2830.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Scikit- learn: Machine learning in python.the Journal of machine Learning research, 12:2825–2830

Reference 37

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.444459Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:3e18d66f5d7328ea6929dad288bcdb87f7bb6d00335169d33be2c3daa1e87295

Observation 0f4200fa-4942-4133-babc-b3fc97bbc931 · outbound

This paper cites Pubmed 2.0.Medical reference services quarterly, 39(4):382–387.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Pubmed 2.0.Medical reference services quarterly, 39(4):382–387

Reference 38

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.449031Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:d2d42a534f67ca7a58d49a5eb0c34b1592d7bf4c321b860562dcd8e096c29126

Observation b9da54f4-1b87-4e2c-98d6-ad028a30b80b · outbound

This paper cites GPT-4o System Card.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization GPT-4o System Card

Reference 39

Resolution
verified exact
local_arxiv, observed 2026-05-12T07:11:26.963347Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:4a02d9ff7c39fa1c164e5bbc992c748e5b3b41ded904ccd399a186f31a7d7866

Observation 2790272b-5f08-4594-a485-02b9de2c8d14 · outbound

This paper cites React: Synergizing reasoningand actinginlanguage models.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization React: Synergizing reasoningand actinginlanguage models

Reference 40

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.462076Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:417d23d8ecd1798aa178468870c5e89ca6c3fb7f95de2288cafd5bad600b982c

Observation 8e35d969-be21-4614-beeb-6759cb622b58 · outbound

This paper cites Can llms express their uncertainty? an empirical evaluation of confidence elicitation in llms.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Can llms express their uncertainty? an empirical evaluation of confidence elicitation in llms

Reference 41

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.466279Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:4bdc30a84eaa65f4a28f006d5c44b146d419f06d9c0976bf068876effb5327b9

Observation f19b8645-cce9-4035-adac-e2161b2ed15c · outbound

This paper cites Language Models (Mostly) Know What They Know.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Language Models (Mostly) Know What They Know

Reference 42

Resolution
verified exact
local_arxiv, observed 2026-05-12T07:11:27.023741Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:cfaff728a66186bc82b4a71efd96411d5eb43c97f045d683a282bb6b782ea8a0

Observation ead88d77-555e-4ed1-a975-7e5a7e464370 · outbound

This paper cites Think twice before assure: Confidence estimation for large language models through reflection on multiple answers.CoRR.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Think twice before assure: Confidence estimation for large language models through reflection on multiple answers.CoRR

Reference 43

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.486261Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:ea6f8baefec5e41d0874df8557417a1d71d50892eb4dad9b3faa88332cef7bff

Observation 2e797996-4a5c-4e6d-ae0e-df7e79c237a0 · outbound

This paper cites Openai o3 and o4-mini system card.https://openai.com/index/ o3-o4-mini-system-card/, April 2025.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Openai o3 and o4-mini system card.https://openai.com/index/ o3-o4-mini-system-card/, April 2025

Reference 44

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.608196Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:3542a4cd8efcbd06fab06bbad95f5cf2788df8087a0d65e53782153f8f6b7888

Observation 1f662b1d-3559-4466-a70c-d5e2f00372d8 · outbound

This paper cites DeepSeek-V3 Technical Report.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization DeepSeek-V3 Technical Report

Reference 45

Resolution
verified exact
local_arxiv, observed 2026-05-12T07:11:26.988674Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:f9e1c82a34e15e0760ab4eed164219b73245876027e8bb322b7222e1176933a7

Observation d26a89f5-0c81-4266-bf30-2e014f41f896 · outbound

This paper cites Lla- mafactory: Unified efficient fine-tuning of 100+ language models.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Lla- mafactory: Unified efficient fine-tuning of 100+ language models

Reference 46

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.556755Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:844dbbe4359804d925c2b7ed044ea908ac9172acc9ae0b9cdbd9e267bcb7e892

Observation 4066bc8c-bc5d-4347-92fe-6faf3e5af711 · outbound

This paper cites Mdagents: An adaptive collabo- ration of llms for medical decision-making.Advances in Neural Information Processing Systems, 37:79410–79452.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Mdagents: An adaptive collabo- ration of llms for medical decision-making.Advances in Neural Information Processing Systems, 37:79410–79452

Reference 47

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.599704Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:d99e62cfe9289bcb231f105d255844367b0e0cc441afa2746d43dbfa685281ff

Observation 689d66f4-4ede-4c1d-ab91-362f04b487b7 · outbound

This paper cites Rdguru: An intelligent agent for rare diseases.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Rdguru: An intelligent agent for rare diseases

Reference 48

Resolution
verified fuzzy
raw_fallback, observed 2026-05-12T18:56:47.519099Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:a61810d66e370df46271a66a13829e4e1dbf9f9973ef877346ca7d332c4aba5c

Observation 220f8ff2-fb85-44fa-bee8-ce1f00641172 · outbound

This paper cites https://arxiv.org/abs/2412.12475.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization https://arxiv.org/abs/2412.12475

Reference 49

Resolution
metadata mismatch
arxiv_id, observed 2026-05-12T07:11:27.008282Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:43923f2bc273a043e6a7b5d7c628919cecb6bf4e0b3cd240a27c781fd9046fef

Observation adec1bc4-00d6-49c9-a907-ddb32eb5ca0f · outbound

This paper cites Distal arthrogryposis type 10.

A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization Distal arthrogryposis type 10

Reference 50

Resolution
malformed identifier
raw_fallback, observed 2026-05-12T18:56:47.498271Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-05-12T03:37:06.009960Z digest=sha256:5268a9ed2c460e38edc4a5f6206dd3bf357bf47dacbaac29d7ffb92b75b0aa6b

Pith citing papers

Observation 4e416dcc-0469-45b9-a6f7-c7f640c64e61 · inbound

DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects cites this paper.

DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization

Reference 37

Resolution
metadata mismatch
local_arxiv, observed 2026-07-04T19:20:06.620209Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-05T06:32:48.257954+00:00.

source=pdf_text observed=2026-06-25T21:30:52.792801Z digest=sha256:098981d2bfa73f24f48509f8a640cc320db159329f8183ca078bc1cc27f4ea6c