PuSH - Publication Server of Helmholtz Zentrum München: Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.

Information

Clues to quality of journals

Open Access Policy of Helmholtz Association 2016

CC Licencences

Publication Metrics

Navigation

Home

Deutsch

EVA: Electronic Publishing

New EVA Application

Research

Advanced Search

Browse by ...

... HMGU-Authors/Consortia

... Organizational Structure

... Journal

... Publication Type

... Research Data

... Arbeitsgruppen

... Publication Year

Publication overview

Statistics

Statistics (last 5 years)

OA Publications

Publish

Submit Publication

Import publication from...

...EVA

Report missing publication

Highlights

Support & Contact

Contact persons

Help

Data protection

Helmholtz Open Science

JANE Journal Estimator

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

Xue, Y.* ; Mezzavilla, M.* ; Haber, M.* ; McCarthy, S.* ; Chen, Y.* ; Narasimhan, V.* ; Gilly, A.* ; Ayub, Q.* ; Colonna, V.* ; Southam, L.* ; Finan, C.* ; Massaia, A.* ; Chheda, H.* ; Palta, P.* ; Ritchie, G.* ; Asimit, J.L.* ; Dedoussis, G.* ; Gasparini, P.* ; Ripatti, S.* ; Soranzo, N.* ; Toniolo, D.* ; Wilson, J.F.* ; Durbin, R.* ; Tyler-Smith, C.* ; Zeggini, E.

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.

Nat. Commun. 8:15927 (2017)

Publ. Version/Full Text

DOI

PMC

	Open Access Gold

Abstract
Metrics
Extra information

The genetic features of isolated populations can boost power in complex-trait association studies, and an in-depth understanding of how their genetic variation has been shaped by their demographic history can help leverage these advantageous characteristics. Here, we perform a comprehensive investigation using 3,059 newly generated low-depth whole-genome sequences from eight European isolates and two matched general populations, together with published data from the 1000 Genomes Project and UK10K. Sequencing data give deeper and richer insights into population demography and genetic characteristics than genotype-chip data, distinguishing related populations more effectively and allowing their functional variants to be studied more fully. We demonstrate relaxation of purifying selection in the isolates, leading to enrichment of rare and low-frequency functional variants, using novel statistics, DVxy and SVxy. We also develop an isolation-index (Isx) that predicts the overall level of such key genetic characteristics and can thus help guide population choice in future complex-trait association studies.

Impact Factor

Scopus SNIP

Scopus
Cited By

Altmetric

12.124

2.995