AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.
Journal
Computational and structural biotechnology journal
ISSN: 2001-0370
Titre abrégé: Comput Struct Biotechnol J
Pays: Netherlands
ID NLM: 101585369
Informations de publication
Date de publication:
2020
2020
Historique:
received:
31
03
2020
revised:
30
06
2020
accepted:
02
07
2020
entrez:
11
8
2020
pubmed:
11
8
2020
medline:
11
8
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32774790
doi: 10.1016/j.csbj.2020.07.003
pii: S2001-0370(20)30335-4
pmc: PMC7394861
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1956-1967Informations de copyright
© 2020 The Authors.
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