Titre
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Quinodoz, M.
Auteure/Auteur
Peter, V.G.
Auteure/Auteur
Bedoni, N.
Auteure/Auteur
Royer Bertrand, B.
Auteure/Auteur
Cisarova, K.
Auteure/Auteur
Salmaninejad, A.
Auteure/Auteur
Sepahi, N.
Auteure/Auteur
Rodrigues, R.
Auteure/Auteur
Piran, M.
Auteure/Auteur
Mojarrad, M.
Auteure/Auteur
Pasdar, A.
Auteure/Auteur
Ghanbari Asad, A.
Auteure/Auteur
Sousa, A.B.
Auteure/Auteur
Coutinho Santos, L.
Auteure/Auteur
Superti-Furga, A.
Auteure/Auteur
Rivolta, C.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
2041-1723
Statut éditorial
Publié
Date de publication
2021-01-22
Volume
12
Numéro
1
Première page
518
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Publication Status: epublish
Résumé
Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), which are now extensively used in medical genetics. We develop AutoMap, a tool that is both web-based or downloadable, to allow performing homozygosity mapping directly on VCF (Variant Call Format) calls from WES or WGS projects. Following a training step on WES data from 26 consanguineous families and a validation procedure on a matched cohort, our method shows higher overall performances when compared with eight existing tools. Most importantly, when tested on real cases with negative molecular diagnosis from an internal set, AutoMap detects three gene-disease and multiple variant-disease associations that were previously unrecognized, projecting clear benefits for both molecular diagnosis and research activities in medical genetics.
PID Serval
serval:BIB_03712A3BC8BB
PMID
Open Access
Oui
Date de création
2021-02-08T07:45:05.756Z
Date de création dans IRIS
2025-05-20T17:06:37Z
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Nom
NCs41467-020-20584-4.pdf
Version du manuscrit
published
Licence
https://creativecommons.org/licenses/by/4.0
Taille
1.72 MB
Format
Adobe PDF
PID Serval
serval:BIB_03712A3BC8BB.P001
URN
urn:nbn:ch:serval-BIB_03712A3BC8BB9
Somme de contrôle
(MD5):b21cb700180d235b97a044b05cdc7b36