AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of homozygosity in whole exome/genome sequencing data.

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Autores principales: Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
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Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a
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spelling oai:doaj.org-article:e12a3800741f47d7be5c3348cd65ae5a2021-12-02T14:18:54ZAutoMap is a high performance homozygosity mapping tool using next-generation sequencing data10.1038/s41467-020-20584-42041-1723https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-20584-4https://doaj.org/toc/2041-1723Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of homozygosity in whole exome/genome sequencing data.Mathieu QuinodozVirginie G. PeterNicola BedoniBéryl Royer BertrandKatarina CisarovaArash SalmaninejadNeda SepahiRaquel RodriguesMehran PiranMajid MojarradAlireza PasdarAli Ghanbari AsadAna Berta SousaLuisa Coutinho SantosAndrea Superti-FurgaCarlo RivoltaNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Mathieu Quinodoz
Virginie G. Peter
Nicola Bedoni
Béryl Royer Bertrand
Katarina Cisarova
Arash Salmaninejad
Neda Sepahi
Raquel Rodrigues
Mehran Piran
Majid Mojarrad
Alireza Pasdar
Ali Ghanbari Asad
Ana Berta Sousa
Luisa Coutinho Santos
Andrea Superti-Furga
Carlo Rivolta
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
description Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of homozygosity in whole exome/genome sequencing data.
format article
author Mathieu Quinodoz
Virginie G. Peter
Nicola Bedoni
Béryl Royer Bertrand
Katarina Cisarova
Arash Salmaninejad
Neda Sepahi
Raquel Rodrigues
Mehran Piran
Majid Mojarrad
Alireza Pasdar
Ali Ghanbari Asad
Ana Berta Sousa
Luisa Coutinho Santos
Andrea Superti-Furga
Carlo Rivolta
author_facet Mathieu Quinodoz
Virginie G. Peter
Nicola Bedoni
Béryl Royer Bertrand
Katarina Cisarova
Arash Salmaninejad
Neda Sepahi
Raquel Rodrigues
Mehran Piran
Majid Mojarrad
Alireza Pasdar
Ali Ghanbari Asad
Ana Berta Sousa
Luisa Coutinho Santos
Andrea Superti-Furga
Carlo Rivolta
author_sort Mathieu Quinodoz
title AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
title_short AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
title_full AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
title_fullStr AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
title_full_unstemmed AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
title_sort automap is a high performance homozygosity mapping tool using next-generation sequencing data
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a
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