NanoFilter: enhancing phasing performance by utilizing highly consistent INDELs and SNVs in nanopore sequencing.

ABSTRACT:

Motivation

Nanopore sequencing data offer longer reads compared to other technologies, which is beneficial for phasing and genome assembly. INDELs provide valuable haplotype information and have significant potential to improve phasing performance. However, accurately identifying INDELs with variant callers is challenging, and incorporating INDELs into phasing remains a complex task. To address these issues, we developed NanoFilter, a novel filtering strategy designed to filter out INDELs that contain wrong phasing information based on their consistency.

Results

Our assessment using Nanopore R10 simplex data shows that filtering out low-consistency INDELs increases their precision from 88.3% to 98.8%, nearly matching the precision of SNVs. In the phasing results of Margin, i

SUBMITTER: Chen S 

PROVIDER: S-EPMC12448842 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature