Evidence map›Paper›PMID 24951659›Full record

ArticleCirculation. Cardiovascular genetics2014

Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Honghuang Lin, Min Wang, Jennifer A Brody, Joshua C Bis, Josée Dupuis, Thomas Lumley, Barbara McKnight, Kenneth M Rice, Colleen M Sitlani, Jeffrey G Reid and 26 more

Abstract read
In one paragraph

Article in Circulation. Cardiovascular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 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

14 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Advances in the Genetics of Hypertension: The Effect of Rare Variants.International journal of molecular sciences · 2018
    Review
  7. Article
  8. Article
  9. Association of the IGF1 gene with fasting insulin levels.European journal of human genetics : EJHG · 2016
    Article
  10. Analysis of Sequence Data Under Multivariate Trait-Dependent Sampling.Journal of the American Statistical Association · 2015
    Article
  11. Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations.Proceedings of the National Academy of Sciences of the United States of America · 2015
    Article
  12. Article
  13. Article
  14. 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

36 authors.

Honghuang Lin
Min Wang
Jennifer A Brody
Joshua C Bis
Josée Dupuis
Thomas Lumley
Barbara McKnight
Kenneth M Rice
Colleen M Sitlani
Jeffrey G Reid
Jan Bressler
Xiaoming Liu
Brian C Davis
Andrew D Johnson
Christopher J O'Donnell
Christie L Kovar
Huyen Dinh
Yuanqing Wu
Irene Newsham
Han Chen
Andi Broka
Anita L DeStefano
Mayetri Gupta
Kathryn L Lunetta
Ching-Ti Liu
Charles C White
Chuanhua Xing
Yanhua Zhou
Emelia J Benjamin
Renate B Schnabel
Susan R Heckbert
Bruce M Psaty
Donna M Muzny
L Adrienne Cupples
Alanna C Morrison
Eric Boerwinkle

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
Building on GWAS for NHLBI-disease: the CHARGE consortiumRC2HL102419 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2009 to 2010
$27.6M
Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI JOHNSON, ANDREW · 2013 to 2025
$25.3M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8M
Exceptional Survival: Trajectories to Functional Aging (CHS All Stars)R01AG023629 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI NEWMAN, ANNE B. · 2004 to 2016
$9.5M
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
Genomic Epidemiology of Cardiovascular DiseaseZIAHL006002 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI O'DONNELL, CHRISTOPHER · 2009 to 2015
$8.0M
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
Predictors of Alheimers Disease in Mild Cognitive ImpairmentR01AG020098 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LOPEZ, OSCAR L. · 2002 to 2011
$3.7M
Intramural NIH HHS Z99 HL999999Intramural NIH HHS ZIA HL006002NHGRI NIH HHS U54 HG003273NHLBI NIH HHS 5RC2HL102419NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI 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 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085084NHLBI NIH HHS N01 HC085085NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01-HC-25195NHLBI 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-85086NHLBI NIH HHS N01-HC-85239NHLBI NIH HHS N02 HL064278NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL080295NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01HL086694NHLBI NIH HHS R01 HL087641NHLBI NIH HHS R01HL087641NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01HL59367NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL080295NIA NIH HHS AG-023629NIA NIH HHS AG-027058NIA NIH HHS AG-20098NIA NIH HHS R01 AG015928NIA NIH HHS R01 AG020098NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG027058NIA NIH HHS R56 AG020098NIA NIH HHS R56 AG023629
6 · The paper itself

Abstract

backgroundGenome-wide association studies have identified thousands of genetic variants that influence a variety of diseases and health-related quantitative traits. However, the causal variants underlying the majority of genetic associations remain unknown. Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study aims to follow up genome-wide association study signals and identify novel associations of the allelic spectrum of identified variants with cardiovascular-related traits. METHODS AND

resultsThe study included 4231 participants from 3 CHARGE cohorts: the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, and the Framingham Heart Study. We used a case-cohort design in which we selected both a random sample of participants and participants with extreme phenotypes for each of 14 traits. We sequenced and analyzed 77 genomic loci, which had previously been associated with ≥1 of 14 phenotypes. A total of 52 736 variants were characterized by sequencing and passed our stringent quality control criteria. For common variants (minor allele frequency ≥1%), we performed unweighted regression analyses to obtain P values for associations and weighted regression analyses to obtain effect estimates that accounted for the sampling design. For rare variants, we applied 2 approaches: collapsed aggregate statistics and joint analysis of variants using the sequence kernel association test.

conclusionsWe sequenced 77 genomic loci in participants from 3 cohorts. We established a set of filters to identify high-quality variants and implemented statistical and bioinformatics strategies to analyze the sequence data and identify potentially functional variants within genome-wide association study loci.

Indexed as

Genome-Wide Association StudyAdultAgedAged, 80 and overAgingCohort StudiesFemaleGenetic VariationGenomicsHeart DiseasesHumansMaleMiddle AgedPolymorphism, Single NucleotideResearch DesignSequence Analysis, DNAepidemiologygeneticssampling studies

Identifiers

PMID24951659
PMCPMC4176824

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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.