Pith. sign in

REVIEW

Robust haplotype-resolved assembly of diploid individuals without parental data

Not yet reviewed by Pith; the record is open.

This paper has not been read by Pith yet. Machine review is queued; the pith claim, tier, and objections will appear here once it completes.

SPECIMEN: schema-true, not a live event

T0 review · schema-true

One-sentence machine reading of the paper's core claim.

pith:XXXXXXXX · record.json · timestamp

arxiv 2109.04785 v1 pith:5IQEMOZ3 submitted 2021-09-10 q-bio.GN

Robust haplotype-resolved assembly of diploid individuals without parental data

classification q-bio.GN
keywords assemblyhaplotype-resolvedalgorithmassembliesdatasingle-samplewithoutapplied
verification ladder T0 review T1 audit T2 compute T3 formal T4 reserved
0 comments
read the original abstract

Routine single-sample haplotype-resolved assembly remains an unresolved problem. Here we describe a new algorithm that combines PacBio HiFi reads and Hi-C chromatin interaction data to produce a haplotype-resolved assembly without the sequencing of parents. Applied to human and other vertebrate samples, our algorithm consistently outperforms existing single-sample assembly pipelines and generates assemblies of comparable quality to the best pedigree-based assemblies.

discussion (0)

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