Evidence map›Paper›PMID 26366554›Full record

ArticleNature genetics2015

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Carlo Sidore, Fabio Busonero, Andrea Maschio, Eleonora Porcu, Silvia Naitza, Magdalena Zoledziewska, Antonella Mulas, Giorgio Pistis, Maristella Steri, Fabrice Danjou and 30 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 250 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
250citing papers in PubMed, 8 pooled it
–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

250 citing papers in PubMed, 8 syntheses or guidelines pooled it.

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190 more citing papers are in PubMed but not listed here.

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

40 authors.

Carlo Sidore *Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Fabio Busonero *Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Andrea Maschio *Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Eleonora Porcu *Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Silvia Naitza *Istituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Magdalena ZoledziewskaIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Antonella MulasIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Giorgio PistisIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Maristella SteriIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Fabrice DanjouIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Alan KwongCenter for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
Vicente Diego Ortega Del VecchyoInterdepartmental Program in Bioinformatics, University of California - Los Angeles, CA,USA.
Charleston W K ChiangDepartment of Ecology and Evolutionary Biology, University of California, Los Angeles, CA, USA.
Jennifer Bragg-GreshamCenter for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
Maristella PitzalisIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Ramaiah NagarajaLaboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA.
Brendan TarrierUniversity of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
Christine BrennanUniversity of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
Sergio UzzauPorto Conte Ricerche srl, Tramariglio, Alghero, 07041 Italy.
Christian FuchsbergerCenter for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
Rossano AtzeniCenter for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy.
Frederic ReinierCenter for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy.
Riccardo BeruttiUniversità degli Studi di Sassari, Sassari, Italy.
Jie HuangHuman Genetics, Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1HH.
Nicholas J TimpsonMRC Integrative Epidemiology Unit at the University of Bristol, University of Bristol, Bristol, United Kingdom.
Daniela TonioloDivision of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.
Paolo GaspariniDSM-University of Trieste and IRCCS-Burlo Garofolo Children Hospital (Trieste, Italy).
Giovanni MalerbaDepartment of Life and Reproduction Sciences, University of Verona, Verona, Italy.
George DedoussisHarokopio University Athens.
Eleftheria ZegginiHuman Genetics, Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1HH.
Nicole SoranzoHuman Genetics, Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1HH.
Chris JonesCenter for Advanced Studies, Research, and Development in Sardinia (CRS4), AGCT Program, Parco Scientifico e tecnologico della Sardegna, Pula, Italy.
Robert LyonsUniversity of Michigan, DNA Sequencing Core, Ann Arbor, MI, USA.
Andrea AngiusIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Hyun M KangCenter for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.
John NovembreDepartment of Human Genetics, University of Chicago, IL, USA.
Serena SannaIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
David SchlessingerLaboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA.
Francesco CuccaIstituto di Ricerca Genetica e Biomedica, CNR, Monserrato, Cagliari, Italy.
Gonçalo R AbecasisCenter for Statistical Genetics, Ann Arbor, University of Michigan, MI, USA.

Funding

Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaU01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2017 to 2018
$6.3M
Aging-related Traits and Disease Risk Factors in a Sardinian Population CohortZIAAG000675 · NIA · NATIONAL INSTITUTE ON AGING · PI GOROSPE, MYRIAM · 2009 to 2021
$5.7M
Robust Software Tools for Variant Identification and Functional AssessmentU01HG006513 · NHGRI · UNIVERSITY OF UTAH · PI ABECASIS, GONCALO, MARTH, GABOR T · 2012 to 2015
$4.2M
Genetics of Lipid Levels: Draft Sequencing of 1000 GenomesRC2HG005581 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2009 to 2010
$4.0M
Computational and statistical models for human geneticsR01HG007022 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2012 to 2016
$3.0M
Modular Software for Sequence Data Quality Checking Alignment & Variant-CallingRC2HG005552 · NHGRI · BOSTON COLLEGE · PI ABECASIS, GONCALO, MARTH, GABOR T · 2009 to 2012
$2.4M
Haplotype-based analysis methods for population genomicsR01HG007089 · NHGRI · UNIVERSITY OF CHICAGO · PI NOVEMBRE, JOHN · 2013 to 2017
$1.5M
Using whole genomes to study demography and mapping power of a population isolateF32GM106656 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CHIANG, CHARLESTON · 2013 to 2014
$107k
European Research Council 280559Medical Research Council MC_UU_12013/3NHGRI NIH HHS HG005552NHGRI NIH HHS HG005581NHGRI NIH HHS HG006513NHGRI NIH HHS HG007022NHGRI NIH HHS HG007089NHGRI NIH HHS R01 HG007022NHGRI NIH HHS R01 HG007089NHGRI NIH HHS RC2 HG005552NHGRI NIH HHS RC2 HG005581NHGRI NIH HHS U01 HG006513NHLBI NIH HHS HL117626NHLBI NIH HHS R01 HL117626NHLBI NIH HHS U01 HL117626NIA NIH HHS N01-AG-1-2109NIDA NIH HHS HHSN271201100005CNIGMS NIH HHS F32 GM106656NIGMS NIH HHS F32GM106656)Wellcome Trust 091310Wellcome Trust 098051Wellcome Trust WT091310/C/10/Z
6 · The paper itself

Abstract

We report ∼17.6 million genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from previous sequencing-based compilations and are enriched for predicted functional consequences. Furthermore, ∼76,000 variants common in our sample (frequency >5%) are rare elsewhere (<0.5% in the 1000 Genomes Project). We assessed the impact of these variants on circulating lipid levels and five inflammatory biomarkers. We observe 14 signals, including 2 major new loci, for lipid levels and 19 signals, including 2 new loci, for inflammatory markers. The new associations would have been missed in analyses based on 1000 Genomes Project data, underlining the advantages of large-scale sequencing in this founder population.

Indexed as

Genetic VariationAdolescentAdultAgedAged, 80 and overBiomarkersFemaleFounder EffectGene FrequencyGenetics, PopulationGenome, HumanGenome-Wide Association StudyGenotypeGeographyHaplotypesHumansBiomarkersInflammation MediatorsLipids

Identifiers

PMID26366554
PMCPMC4627508

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Registered trials

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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.