Evidence map›Paper›PMID 34426522›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2021

The genetic structure of the Turkish population reveals high levels of variation and admixture.

M Ece Kars, A Nazlı Başak, O Emre Onat, Kaya Bilguvar, Jungmin Choi, Yuval Itan, Caner Çağlar, Robin Palvadeau, Jean-Laurent Casanova, David N Cooper and 6 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 68 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 1 pooled it
10.4field-weighted citation impact, top 1% of its field
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

68 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.

  1. Pooled it
  2. Bietti crystalline dystrophy in Türkiye: A genetic crossroads between Asia and Europe.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Article
  3. Appreciating diversity: a review of the Iranian genomic landscape.European journal of human genetics : EJHG · 2026
    Review
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  7. AAVC: An automated framework for high-accuracy ACMG-based variant classification.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
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8 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 9 institutions in 5 countries.

M Ece KarsDepartment of Molecular Biology and Genetics, Bilkent University, 06800 Ankara, Turkey.ORCID 0000-0001-5922-5608
A Nazlı BaşakSuna and Inan Kıraç Foundation, Neurodegeneration Research Laboratory, Research Center for Translational Medicine, Koç University School of Medicine, 34450 Istanbul, Turkey.ORCID 0000-0001-6977-2517
O Emre OnatDepartment of Molecular Biology and Genetics, Bilkent University, 06800 Ankara, Turkey.ORCID 0000-0002-7105-1572
Kaya BilguvarDepartment of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510.
Jungmin ChoiDepartment of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510.
Yuval ItanCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Caner ÇağlarLaboratory of Molecular Genetics, Rockefeller University, New York, NY 10065.ORCID 0000-0002-5857-757X
Robin PalvadeauSuna and Inan Kıraç Foundation, Neurodegeneration Research Laboratory, Research Center for Translational Medicine, Koç University School of Medicine, 34450 Istanbul, Turkey.
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065.ORCID 0000-0002-7782-4169
David N CooperInstitute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.ORCID 0000-0002-8943-8484
Peter D StensonInstitute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.
Alper YavuzDepartment of Surgery, Keçiören Training and Research Hospital, 06000 Ankara, Turkey.
Hakan BuluşKeçiören Training and Research Hospital, Department of Surgery, University of Health Sciences, 06000 Ankara, Turkey.
Murat GünelDepartment of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510.
Jeffrey M FriedmanLaboratory of Molecular Genetics, Rockefeller University, New York, NY 10065.ORCID 0000-0003-2152-0868
Tayfun ÖzçelikDepartment of Molecular Biology and Genetics, Bilkent University, 06800 Ankara, Turkey; tozcelik@bilkent.edu.tr.
Bilkent University · TRCardiff University · GBKoç University · TRRockefeller University · USYale University · USIcahn School of Medicine at Mount Sinai · USInserm · FRKorea University · KRSağlık Bilimleri Üniversitesi · TR

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2004 to 2021
$29.8M
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
Monogenic basis of resistance to SARS-CoV2 and predisposition to severe COVID-19R01AI088364 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Shen-Ying Zhang · 2010 to 2026
$8.7M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
Genome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8M
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6M
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR001866NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NIAID NIH HHS P01 AI061093NIAID NIH HHS R01 AI088364NIAID NIH HHS R01 AI127564NIAID NIH HHS R37 AI095983
6 · The paper itself

Abstract

The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated subjects whose whole exomes (

Indexed as

AllelesConsanguinityExomeExome SequencingGene FrequencyGenetic DriftGenetics, PopulationGenetic VariationGenome, HumanGenome-Wide Association StudyGenotypeHaplotypesHuman MigrationHumansTurkeyadmixturepopulation geneticssequencingTurkish Variomevariation

Identifiers

PMID34426522
PMCPMC8433500
OpenAlexW3194421078

What OpenQuestion holds

Textmetadata
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.