pith. machine review for the scientific record. sign in

arxiv: 1805.03834 · v2 · submitted 2018-05-10 · 💻 cs.DS

Recognition: unknown

Haplotype-aware graph indexes

Authors on Pith no claims yet
classification 💻 cs.DS
keywords graphhaplotypesvariationdevelophaplotypeimplementationindexingpaths
0
0 comments X
read the original abstract

The variation graph toolkit (VG) represents genetic variation as a graph. Each path in the graph is a potential haplotype, though most paths are unlikely recombinations of true haplotypes. We augment the VG model with haplotype information to identify which paths are more likely to be correct. For this purpose, we develop a scalable implementation of the graph extension of the positional Burrows--Wheeler transform. We demonstrate the scalability of the new implementation by indexing the 1000 Genomes Project haplotypes. We also develop an algorithm for simplifying variation graphs for k-mer indexing without losing any k-mers in the haplotypes.

This paper has not been read by Pith yet.

discussion (0)

Sign in with ORCID, Apple, or X to comment. Anyone can read and Pith papers without signing in.