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.
Guardado en:
Autores principales: | , , , , , , , , , , , , , , , |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
id |
oai:doaj.org-article:e12a3800741f47d7be5c3348cd65ae5a |
---|---|
record_format |
dspace |
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 |
work_keys_str_mv |
AT mathieuquinodoz automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT virginiegpeter automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT nicolabedoni automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT berylroyerbertrand automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT katarinacisarova automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT arashsalmaninejad automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT nedasepahi automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT raquelrodrigues automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT mehranpiran automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT majidmojarrad automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT alirezapasdar automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT alighanbariasad automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT anabertasousa automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT luisacoutinhosantos automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT andreasupertifurga automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata AT carlorivolta automapisahighperformancehomozygositymappingtoolusingnextgenerationsequencingdata |
_version_ |
1718391638907158528 |