Leaf: an Ultrafast Filter for Population-scale Long-read SV Detection

Overview

Journal Genome Biol

Specialties Biology
Genetics

Date 2024 Jun 13

PMID 38872200

Authors

Chenxu Pan

Knut Reinert

Affiliations

Soon will be listed here.

Abstract

Advances in sequencing technology have facilitated population-scale long-read structural variant (SV) detection. Arguably, one of the main challenges in population-scale analysis is developing effective computational pipelines. Here, we present a new filter-based pipeline for population-scale long-read SV detection. It better captures SV signals at an early stage than conventional assembly-based or alignment-based pipelines. Assessments in this work suggest that the filter-based pipeline helps better resolve intra-read rearrangements. Moreover, it is also more computationally efficient than conventional pipelines and thus may facilitate population-scale long-read applications.

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