Natural human knockouts and the era of genotype to phenotype

Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent identification of human knockouts along the entire spectrum of health and disease by next-generation sequencing promises to unlock their ful...

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Detalles Bibliográficos
Autor principal: Alkuraya, Fowzan S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448306/
https://www.ncbi.nlm.nih.gov/pubmed/26029266
http://dx.doi.org/10.1186/s13073-015-0173-z
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author Alkuraya, Fowzan S
author_facet Alkuraya, Fowzan S
author_sort Alkuraya, Fowzan S
collection PubMed
description Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent identification of human knockouts along the entire spectrum of health and disease by next-generation sequencing promises to unlock their full potential to accelerate the medical and functional annotation of the human genome.
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spelling pubmed-44483062015-05-30 Natural human knockouts and the era of genotype to phenotype Alkuraya, Fowzan S Genome Med Comment Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent identification of human knockouts along the entire spectrum of health and disease by next-generation sequencing promises to unlock their full potential to accelerate the medical and functional annotation of the human genome. BioMed Central 2015-05-29 /pmc/articles/PMC4448306/ /pubmed/26029266 http://dx.doi.org/10.1186/s13073-015-0173-z Text en © Alkuraya; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Comment
Alkuraya, Fowzan S
Natural human knockouts and the era of genotype to phenotype
title Natural human knockouts and the era of genotype to phenotype
title_full Natural human knockouts and the era of genotype to phenotype
title_fullStr Natural human knockouts and the era of genotype to phenotype
title_full_unstemmed Natural human knockouts and the era of genotype to phenotype
title_short Natural human knockouts and the era of genotype to phenotype
title_sort natural human knockouts and the era of genotype to phenotype
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448306/
https://www.ncbi.nlm.nih.gov/pubmed/26029266
http://dx.doi.org/10.1186/s13073-015-0173-z
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