Pith. sign in
Pith Number

pith:FVKFNN7C

pith:2023:FVKFNN7CZR3ULQNMSIM7HIQGRE
not attested not anchored not stored refs pending

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

Alba Sanchis-Juan, Anne O'Donnell-Luria, Bo Yuan, Chloe M. Reuter, Danny E. Miller, Deepti Jain, Emily E. Groopman, Emmanu\`ele C. D\'elot, Fritz J. Sedlazeck, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Hayk Barseghyan, Jessica X. Chong, Lea M. Starita, Matthew T. Wheeler, Medhat Mahmoud, Michael H. Duyzend, Michael J. Bamshad, Michael Talkowski, Monica H. Wojcik, Philip M. Boone, Seth I. Berger, Shruti Marwaha, Stephen B. Montgomery

arxiv:2301.07363 v1 · 2023-01-18 · q-bio.GN

Add to your LaTeX paper
\usepackage{pith}
\pithnumber{FVKFNN7CZR3ULQNMSIM7HIQGRE}

Prints a linked badge after your title and injects PDF metadata. Compiles on arXiv. Learn more · Embed verified badge

Record completeness

1 Bitcoin timestamp
2 Internet Archive
3 Author claim open · sign in to claim
4 Citations open
5 Replications open
Portable graph bundle live · download bundle · merged state
The bundle contains the canonical record plus signed events. A mirror can host it anywhere and recompute the same current state with the deterministic merge algorithm.
Receipt and verification
First computed 2026-07-05T07:49:29.869095Z
Builder pith-number-builder-2026-05-17-v1
Signature Pith Ed25519 (pith-v1-2026-05) · public key
Schema pith-number/v1.0

Canonical hash

2d5456b7e2cc7745c1ac9219f3a206892977388427fb4e5562698b7de385e36b

Aliases

arxiv: 2301.07363 · arxiv_version: 2301.07363v1 · doi: 10.48550/arxiv.2301.07363 · pith_short_12: FVKFNN7CZR3U · pith_short_16: FVKFNN7CZR3ULQNM · pith_short_8: FVKFNN7C
Agent API
Verify this Pith Number yourself
curl -sH 'Accept: application/ld+json' https://pith.science/pith/FVKFNN7CZR3ULQNMSIM7HIQGRE \
  | jq -c '.canonical_record' \
  | python3 -c "import sys,json,hashlib; b=json.dumps(json.loads(sys.stdin.read()), sort_keys=True, separators=(',',':'), ensure_ascii=False).encode(); print(hashlib.sha256(b).hexdigest())"
# expect: 2d5456b7e2cc7745c1ac9219f3a206892977388427fb4e5562698b7de385e36b
Canonical record JSON
{
  "metadata": {
    "abstract_canon_sha256": "9cbdde45461e7c218e6a9a1ead9b0d63597fb58d25222002827167c185d54c6a",
    "cross_cats_sorted": [],
    "license": "http://creativecommons.org/licenses/by-nc-nd/4.0/",
    "primary_cat": "q-bio.GN",
    "submitted_at": "2023-01-18T08:14:31Z",
    "title_canon_sha256": "68b9423c72830d35e534933c59bfdcfd801fb9a16a60a617e1bbb2e46af9afc0"
  },
  "schema_version": "1.0",
  "source": {
    "id": "2301.07363",
    "kind": "arxiv",
    "version": 1
  }
}