English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Significant abundance of cis configurations of coding variants in diploid human genomes

Hoehe, M. R., Herwig, R., Mao, Q., Peters, B. A., Drmanac, R., Church, G. M., et al. (2019). Significant abundance of cis configurations of coding variants in diploid human genomes. Nucleic Acids Research (London), 47(6), 2981-2995. doi:10.1093/nar/gkz031.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/21.11116/0000-0003-514F-A Version Permalink: http://hdl.handle.net/21.11116/0000-0004-9BC3-1
Genre: Journal Article

Files

show Files
hide Files
:
Hoehe2019.pdf (Publisher version), 3MB
Name:
Hoehe2019.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© The Author(s) 2019

Locators

show

Creators

show
hide
 Creators:
Hoehe, Margret R.1, Author              
Herwig, Ralf2, Author              
Mao , Qing , Author
Peters , Brock A. , Author
Drmanac , Radoje , Author
Church, George M., Author
Huebsch, Thomas1, Author              
Affiliations:
1Diploid Genomics (Margret R. Hoehe), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2266717              
2Bioinformatics (Ralf Herwig), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385701              

Content

show
hide
Free keywords: -
 Abstract: To fully understand human genetic variation and its functional consequences, the specific distribution of variants between the two chromosomal homologues of genes must be known. The 'phase' of variants can significantly impact gene function and phenotype. To assess patterns of phase at large scale, we have analyzed 18 121 autosomal genes in 1092 statistically phased genomes from the 1000 Genomes Project and 184 experimentally phased genomes from the Personal Genome Project. Here we show that genes with cis-configurations of coding variants are more frequent than genes with trans-configurations in a genome, with global cis/trans ratios of ∼60:40. Significant cis-abundance was observed in virtually all genomes in all populations. Moreover, we identified a large group of genes exhibiting cis-configurations of protein-changing variants in excess, so-called 'cis-abundant genes', and a smaller group of 'trans-abundant genes'. These two gene categories were functionally distinguishable, and exhibited strikingly different distributional patterns of protein-changing variants. Underlying these phenomena was a shared set of phase-sensitive genes of importance for adaptation and evolution. This work establishes common patterns of phase as key characteristics of diploid human exomes and provides evidence for their functional significance, highlighting the importance of phase for the interpretation of protein-coding genetic variation and gene function.

Details

show
hide
Language(s): eng - English
 Dates: 2019-01-152019-01-302019-04-08
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1093/nar/gkz031
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Nucleic Acids Research (London)
  Other : Nucleic Acids Res
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Oxford : Oxford University Press
Pages: 15 Volume / Issue: 47 (6) Sequence Number: - Start / End Page: 2981 - 2995 Identifier: ISSN: 0305-1048
CoNE: https://pure.mpg.de/cone/journals/resource/110992357379342