Evidence map›Paper›PMID 25807536›Full record

ArticlePloS one2015

Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Fuli Yu, Jian Lu, Xiaoming Liu, Elodie Gazave, Diana Chang, Srilakshmi Raj, Haley Hunter-Zinck, Ran Blekhman, Leonardo Arbiza, Cris Van Hout and 11 more

Abstract read
In one paragraph

Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Fitness Landscape of the Fission Yeast Genome.Molecular biology and evolution · 2019
    Article
  5. Genetic Diversity on the Sex Chromosomes.Genome biology and evolution · 2018
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Fuli YuHuman Genome Sequencing Center, Molecular and Human Genetics Department, Baylor College of Medicine, Houston, Texas, United States of America; Institute of Neurology, Tianjin Medical University General Hospital, Tianjin, China.
Jian LuDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America; College of Life Sciences, State Key Laboratory of Protein and Plant Gene Research, Center for Bioinformatics, Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, China.
Xiaoming LiuHuman Genetic Center, University of Texas Health Science Center, Houston, Texas, United States of America.
Elodie GazaveDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Diana ChangDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Srilakshmi RajDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Haley Hunter-ZinckDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Ran BlekhmanDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Leonardo ArbizaDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Cris Van HoutDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Alanna MorrisonHuman Genetic Center, University of Texas Health Science Center, Houston, Texas, United States of America.
Andrew D JohnsonNational Heart, Lung and Blood Institute (NHLBI) Framingham Heart Study, Framingham, Massachusetts, United States of America.
Joshua BisCardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, Washington, United States of America.
L Adrienne CupplesNational Heart, Lung and Blood Institute (NHLBI) Framingham Heart Study, Framingham, Massachusetts, United States of America.
Bruce M PsatyCardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, Washington, United States of America.
Donna MuznyHuman Genome Sequencing Center, Molecular and Human Genetics Department, Baylor College of Medicine, Houston, Texas, United States of America.
Jin YuHuman Genome Sequencing Center, Molecular and Human Genetics Department, Baylor College of Medicine, Houston, Texas, United States of America.
Richard A GibbsHuman Genome Sequencing Center, Molecular and Human Genetics Department, Baylor College of Medicine, Houston, Texas, United States of America.
Alon KeinanDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Andrew G ClarkDepartment of Molecular Biology and Genetics, Cornell University, Ithaca, New York, New York, United States of America.
Eric BoerwinkleHuman Genome Sequencing Center, Molecular and Human Genetics Department, Baylor College of Medicine, Houston, Texas, United States of America; Human Genetic Center, University of Texas Health Science Center, Houston, Texas, United States of America.

Funding

Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
CHS Events Follow-up StudyR01HL080295 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2009 to 2014
$6.3M
WGA Study to Identify Genetic Variants Associated with CV Events in CHSR01HL087652 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2007 to 2009
$5.1M
CHS Events Follow-up StudyU01HL080295 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M · 2005 to 2008
$4.6M
The X-factor of complex disease: From population genetics to GWAS of Chromosome XR01HG006849 · NHGRI · CORNELL UNIVERSITY · PI CLARK, ANDREW G · 2013 to 2020
$2.3M
Population Genetic Consequences of Recent Explosive Population Growth in HumansR01GM108805 · NIGMS · CORNELL UNIVERSITY · PI CLARK, ANDREW G, KEINAN, ALON · 2014 to 2017
$2.2M
CHS-ULTRASOUND READINGN01HC045133 · HC · GEISINGER HEALTH SYSTEM · PI O'LEARY, DANIEL H. · 1994 to 2000
$155k
CORONARY HEART DISEASE AND STROKE IN PEOPLE AGED 65-84N01HC085082 · HC · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KULLER, LEWIS H · 1988 to 2000
–
MRI READING CENTER FOR THE CARDIOVASCULAR HEALTH STUDYN01HC015103 · HC · JOHNS HOPKINS UNIVERSITY · PI BEAUCHAMP, NORMAN J · 1991 to 1998
–
CORONARY HEART DISEASE AND STROKE IN PEOPLE AGED 65-84N01HC085084 · HC · UNIVERSITY OF CALIFORNIA IRVINE · PI GARDIN, JULIUS M. · 1988 to 1991
–
CORONARY HEART DISEASE AND STROKE IN PEOPLE AGED 65-84N01HC085085 · HC · NEW ENGLAND DEACONESS HOSPITAL · PI O'LEARY, DANIEL · 1988 to 1993
–
NHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HL080295NHLBI NIH HHS HL087652NHLBI NIH HHS HL105756NHLBI NIH HHS N01 HC015103NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC035129NHLBI NIH HHS N01 HC045133NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC075150NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC-15103NHLBI NIH HHS N01-HC-25195NHLBI NIH HHS N01-HC-35129NHLBI NIH HHS N01-HC-45133NHLBI NIH HHS N01 HC-55222NHLBI NIH HHS N01-HC-75150NHLBI NIH HHS N01-HC-85079NHLBI NIH HHS N01-HC-85080NHLBI NIH HHS N01-HC-85081NHLBI NIH HHS N01-HC-85082NHLBI NIH HHS N01-HC-85083NHLBI NIH HHS N01-HC-85084NHLBI NIH HHS N01-HC-85085NHLBI NIH HHS N01-HC-85086NHLBI NIH HHS N01-HC-85239NHLBI NIH HHS R01 HL080295NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL105756NHLBI NIH HHS U01 HL080295NIGMS NIH HHS R01 GM108805
6 · The paper itself

Abstract

Whole genome analysis in large samples from a single population is needed to provide adequate power to assess relative strengths of natural selection across different functional components of the genome. In this study, we analyzed next-generation sequencing data from 962 European Americans, and found that as expected approximately 60% of the top 1% of positive selection signals lie in intergenic regions, 33% in intronic regions, and slightly over 1% in coding regions. Several detailed functional annotation categories in intergenic regions showed statistically significant enrichment in positively selected loci when compared to the null distribution of the genomic span of ENCODE categories. There was a significant enrichment of purifying selection signals detected in enhancers, transcription factor binding sites, microRNAs and target sites, but not on lincRNA or piRNAs, suggesting different evolutionary constraints for these domains. Loci in "repressed or low activity regions" and loci near or overlapping the transcription start site were the most significantly over-represented annotations among the top 1% of signals for positive selection.

Indexed as

DNA, IntergenicMetagenomicsPolymorphism, Single NucleotideGenetic LociHumansOpen Reading FramesDNA, Intergenic

Identifiers

PMID25807536
PMCPMC4373932

What OpenQuestion holds

Textmetadata
LicenceCC0
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.