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AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.

Abstract：

:Runs of Homozygosity (RoHs) are popular among geneticists as the footprint of demographic processes, evolutionary forces and inbreeding in shaping our genome, and are known to confer risk of Mendelian and complex diseases. Notwithstanding growing interest in their study, there is unmet need for reliable and rapid methods for genomic analyses in large data sets. AUDACITY is a tool integrating novel RoH detection algorithm and autozygosity prediction score for prioritization of mutation-surrounding regions. It processes data in VCF file format, and outperforms existing methods in identifying RoHs of any size. Simulations and analysis of real exomes/genomes show its potential to foster future RoH studies in medical and population genomics.

journal_name

Comput Struct Biotechnol J

journal_title

Computational and structural biotechnology journal

authors

Magi A,Giangregorio T,Semeraro R,Carangelo G,Palombo F,Romeo G,Seri M,Pippucci T

doi

10.1016/j.csbj.2020.07.003

subject

Has Abstract

pub_date

2020-07-14 00:00:00

pages

1956-1967

issn

2001-0370

pii

S2001-0370(20)30335-4

journal_volume

18

pub_type

杂志文章

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