The impact of rare and low-frequency genetic variants in common disease

Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here...

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Detalles Bibliográficos
Autores principales: Bomba, Lorenzo, Walter, Klaudia, Soranzo, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408830/
https://www.ncbi.nlm.nih.gov/pubmed/28449691
http://dx.doi.org/10.1186/s13059-017-1212-4
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author Bomba, Lorenzo
Walter, Klaudia
Soranzo, Nicole
author_facet Bomba, Lorenzo
Walter, Klaudia
Soranzo, Nicole
author_sort Bomba, Lorenzo
collection PubMed
description Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here we review experimental approaches and current knowledge on the contribution of these genetic variants in complex disease and discuss challenges and opportunities for personalised medicine. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13059-017-1212-4) contains supplementary material, which is available to authorized users.
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spelling pubmed-54088302017-05-02 The impact of rare and low-frequency genetic variants in common disease Bomba, Lorenzo Walter, Klaudia Soranzo, Nicole Genome Biol Review Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted for. Advances in sequencing technology enable focused explorations on the contribution of low-frequency and rare variants to human traits. Here we review experimental approaches and current knowledge on the contribution of these genetic variants in complex disease and discuss challenges and opportunities for personalised medicine. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13059-017-1212-4) contains supplementary material, which is available to authorized users. BioMed Central 2017-04-27 /pmc/articles/PMC5408830/ /pubmed/28449691 http://dx.doi.org/10.1186/s13059-017-1212-4 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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 Review
Bomba, Lorenzo
Walter, Klaudia
Soranzo, Nicole
The impact of rare and low-frequency genetic variants in common disease
title The impact of rare and low-frequency genetic variants in common disease
title_full The impact of rare and low-frequency genetic variants in common disease
title_fullStr The impact of rare and low-frequency genetic variants in common disease
title_full_unstemmed The impact of rare and low-frequency genetic variants in common disease
title_short The impact of rare and low-frequency genetic variants in common disease
title_sort impact of rare and low-frequency genetic variants in common disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408830/
https://www.ncbi.nlm.nih.gov/pubmed/28449691
http://dx.doi.org/10.1186/s13059-017-1212-4
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