ReviewNature genetics2016
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.
Open access · greenAbstract readReview
In one paragraph
Review in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 167 papers.
0numbers the graph read from it
0cells of the map it votes in
167citing papers in PubMed
47.4field-weighted citation impact, top 1% of its field
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.
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.
Who cites it
167 citing papers in PubMed, 351 citations in OpenAlex.
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Natural Selection of the CommonbioRxiv : the preprint server for biology · 2026Article
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations.Human genetics · 2026Article
- Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.Nature communications · 2026Article
- Malaria shaped human spatial organization for the past 74 thousand years.Science advances · 2026Article
- Complex peopling history and expansion events inferred from large-scale modern and ancient Y chromosome sequences.Science advances · 2026Article
- Article
- Genomic evidence supports the "long chronology" for the peopling of Sahul.Science advances · 2025Article
- Patrilineages of ethnolinguistically diverse populations reveal multifactorial influences on Chinese paternal population stratification.BMC biology · 2025Article
- Y-mer: a k-mer based method for determining human Y chromosome haplogroups from ultra-low sequencing depth data.Genome biology · 2025Article
- Article
- A New Perspective on the Arrival of the Eastern Mediterranean Genetic Influx in Central Italy Before the Onset of the Roman Empire.Genome biology and evolution · 2025Article
- Population histories of the Indigenous Adivasi and Sinhalese from Sri Lanka using whole genomes.Current biology : CB · 2025Article
- Urbanization and genetic homogenization in the medieval Low Countries revealed through a ten-century paleogenomic study of the city of Sint-Truiden.Genome biology · 2025Article
- Article
- Exploring Y-chromosomal STRs and SNPs for forensic and genetic insights in the Jiangsu Han population.BMC genomics · 2025Article
- Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank.American journal of human genetics · 2025Article
- Sex-Biased Admixture Followed by Isolation and Adaptive Evolution Shaped the Genomic and Blood Pressure Diversity of the LopNur People.Molecular biology and evolution · 2025Article
- North Pontic crossroads: Mobility in Ukraine from the Bronze Age to the early modern period.Science advances · 2025Article
107 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
43 authors at 16 institutions in 4 countries.
G David PoznikProgram in Biomedical Informatics, Stanford University, Stanford, California, USA.ORCID 0000-0003-4427-3556
Yali XueWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Fernando L MendezDepartment of Genetics, Stanford University, Stanford, California, USA.
Thomas F WillemsComputational and Systems Biology Program, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Andrea MassaiaWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Melissa A Wilson SayresSchool of Life Sciences, Arizona State University, Tempe, Arizona, USA.ORCID 0000-0002-2614-0285
Qasim AyubWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.ORCID 0000-0003-3291-0917
Shane A McCarthyWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.ORCID 0000-0002-2715-4187
Apurva NarechaniaSackler Institute for Comparative Genomics, American Museum of Natural History, New York, New York, USA.
Seva KashinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Yuan ChenWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Ruby BanerjeeWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Juan L Rodriguez-FloresDepartment of Genetic Medicine, Weill Cornell Medical College, New York, New York, USA.
Maria CerezoWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Haojing ShaoInstitute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
Melissa GymrekNew York Genome Center, New York, New York, USA.
Ankit MalhotraJackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
Sandra LouzadaWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Rob DesalleSackler Institute for Comparative Genomics, American Museum of Natural History, New York, New York, USA.
Graham R S RitchieWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Eliza CerveiraJackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
Tomas W FitzgeraldWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Erik GarrisonWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Anthony MarckettaDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
David MittelmanVirginia Bioinformatics Institute, Virginia Tech, Blacksburg, Virginia, USA.
Mallory RomanovitchJackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
Chengsheng ZhangJackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
Xiangqun Zheng-BradleyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Gonçalo R AbecasisDepartment of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA.
Steven A McCarrollDepartment of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-3897-7955
Peter A UnderhillDepartment of Genetics, Stanford University, Stanford, California, USA.
Lachlan CoinInstitute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
Daniel R ZerbinoEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0001-5350-3056
Fengtang YangWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Charles LeeJackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
Laura ClarkeEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID 0000-0002-5989-6898
Adam AutonDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Yaniv ErlichNew York Genome Center, New York, New York, USA.
Robert E HandsakerProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.ORCID 0000-0002-3128-3547
1000 Genomes Project Consortium
Carlos D BustamanteDepartment of Genetics, Stanford University, Stanford, California, USA.
Chris Tyler-SmithWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Wellcome Sanger Institute · GBEuropean Bioinformatics Institute · GBJackson Laboratory · USStanford University · USAlbert Einstein College of Medicine · USAmerican Museum of Natural History · USBroad Institute · USNew York Genome Center · USThe University of Queensland · AUArizona State University · USCornell University · USEwha Womans University · KRHarvard–MIT Division of Health Sciences and Technology · USHarvard University · USUniversity of Michigan · USVirginia Tech · US
Funding
POSTDOCTORAL TRAINING IN MEDICAL INFORMATION SCIENCEST15LM007033 · NLM · STANFORD UNIVERSITY · PI SYLVIA KATINA PLEVRITIS · 1985 to 2026
$25.5MAn Integrative Analysis of Structural Variation for the 1000 Genomes ProjectU41HG007497 · NHGRI · JACKSON LABORATORY · PI LEE, CHARLES · 2013 to 2017
$13.0MPopulation Genetic Inferences From Dense Genotype DataR01HG003229 · NHGRI · CORNELL UNIVERSITY ITHACA · PI BUSTAMANTE, CARLOS DANIEL, CLARK, ANDREW G · 2004 to 2013
$4.8MGenomic Origins and Admixture in Latinos (GOAL)R01GM090087 · NIGMS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BUSTAMANTE, CARLOS DANIEL, MARTIN, EDEN R. · 2011 to 2014
$1.6MNHGRI NIH HHS R01 HG003229NHGRI NIH HHS U41 HG007497NIGMS NIH HHS R01 GM090087NLM NIH HHS T15 LM007033Wellcome TrustWellcome Trust 085532Wellcome Trust 095908Wellcome Trust 098051Wellcome Trust 104947
Abstract
We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 variants, including single-nucleotide variants, multiple-nucleotide variants, insertions and deletions, short tandem repeats, and copy number variants. Of these, copy number variants contribute the greatest predicted functional impact. We constructed a calibrated phylogenetic tree on the basis of binary single-nucleotide variants and projected the more complex variants onto it, estimating the number of mutations for each class. Our phylogeny shows bursts of extreme expansion in male numbers that have occurred independently among each of the five continental superpopulations examined, at times of known migrations and technological innovations.
Indexed as
Chromosomes, Human, YDemographyHaplotypesHumansMaleMutationPhylogenyPolymorphism, Single Nucleotide
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
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.