Evidence mapPaperPMID 36960714Full record

ArticleCirculation. Genomic and precision medicine2023

Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.

Amanda A Seyerle, Cecelia A Laurie, Brandon J Coombes, Deepti Jain, Matthew P Conomos, Jennifer Brody, Ming-Huei Chen, Stephanie M Gogarten, Kathleen M Beutel, Namrata Gupta and 25 more

Open access · bronzeAbstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
3.4field-weighted citation impact, top 7% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Venous thromboembolic disease genetics: from variants to function.Journal of thrombosis and haemostasis : JTH · 2024
    Review
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

35 authors at 18 institutions in 3 countries.

Amanda A SeyerleDivision of Pharmaceutical Outcomes & Policy, Eshelman School of Pharmacy (A.A.S.), University of North Carolina at Chapel Hill.ORCID 0000-0001-5660-3837
Cecelia A LaurieDepartment of Biostatistics (C.A.L., D.J., M.P.C., S.M.G., B.M., C.C.L., K.R.), University of Washington, Seattle.ORCID 0000-0001-6569-2501
Brandon J CoombesDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN (B.J.C., M.d.A.).ORCID 0000-0003-4322-5923
Deepti JainDepartment of Biostatistics (C.A.L., D.J., M.P.C., S.M.G., B.M., C.C.L., K.R.), University of Washington, Seattle.
Matthew P ConomosDepartment of Biostatistics (C.A.L., D.J., M.P.C., S.M.G., B.M., C.C.L., K.R.), University of Washington, Seattle.ORCID 0000-0001-9744-0851
Jennifer BrodyCardiovascular Health Research Unit (J.B., S.R.H., K.L.W., B.M.P., N.L.S.), University of Washington, Seattle.
Ming-Huei ChenNHLB's The Framingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA (M.-H.C., A.D.J.).ORCID 0000-0003-3551-8726
Stephanie M GogartenDepartment of Biostatistics (C.A.L., D.J., M.P.C., S.M.G., B.M., C.C.L., K.R.), University of Washington, Seattle.ORCID 0000-0002-7231-9745
Kathleen M BeutelNHLB's The Framingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA (M.-H.C., A.D.J.).ORCID 0000-0002-6288-6500
Namrata GuptaBroad Institute of MIT & Harvard, Cambridge, MA (N.G., S.B.G.).ORCID 0000-0001-6786-4995
Susan R HeckbertCardiovascular Health Research Unit (J.B., S.R.H., K.L.W., B.M.P., N.L.S.), University of Washington, Seattle.ORCID 0000-0002-7100-512X
Rebecca D JacksonDivision of Endocrinology, Diabetes & Metabolism, Ohio State University, Columbus (R.D.J.).
Andrew D JohnsonNHLB's The Framingham Heart Study, Population Sciences Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, Framingham, MA (M.-H.C., A.D.J.).ORCID 0000-0001-6369-5178
Darae KoCardiovascular Medicine Section, Boston University School of Medicine (D.K.).ORCID 0000-0002-1174-7535
JoAnn E MansonDepartment of Epidemiology, TH Chan School of Public Health, Harvard University, Boston, MA (J.E.M.).ORCID 0000-0002-9426-7595
Barbara McKnightDepartment of Biostatistics (C.A.L., D.J., M.P.C., S.M.G., B.M., C.C.L., K.R.), University of Washington, Seattle.
Ginger A MetcalfHuman Genome Sequencing Center, Baylor College of Medicine (G.A.M., R.A.G.).ORCID 0000-0002-8316-0071
Alanna C MorrisonHuman Genetics Center, Department of Epidemiology, Human Genetics & Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston (A.C.M., E.B.).ORCID 0000-0001-6381-4296
Alexander P ReinerDepartment of Epidemiology (S.R.H., A.P.R., B.M.P., N.L.S.), University of Washington, Seattle.ORCID 0000-0002-1427-4470
Tamar SoferDivision of Sleep & Circadian Disorders, Brigham and Women's Hospital (T.S.).ORCID 0000-0001-8520-8860
Weihong TangDivision of Epidemiology & Community Health (W.T., J.S.P.), University of Minnesota, Minneapolis.ORCID 0000-0003-1200-0270
Kerri L WigginsCardiovascular Health Research Unit (J.B., S.R.H., K.L.W., B.M.P., N.L.S.), University of Washington, Seattle.ORCID 0000-0003-2749-1279
Trans-Omics for Precision Medicine Program
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics & Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston (A.C.M., E.B.).ORCID 0000-0001-8813-0544
Mariza de AndradeDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN (B.J.C., M.d.A.).ORCID 0000-0003-2329-2686
Stacey B GabrielBroad Institute of MIT & Harvard, Cambridge, MA (N.G., S.B.G.).
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine (G.A.M., R.A.G.).
Cathy C LaurieDepartment of Biostatistics (C.A.L., D.J., M.P.C., S.M.G., B.M., C.C.L., K.R.), University of Washington, Seattle.ORCID 0000-0003-2572-4040
Bruce M PsatyCardiovascular Health Research Unit (J.B., S.R.H., K.L.W., B.M.P., N.L.S.), University of Washington, Seattle.ORCID 0000-0002-7278-2190
Ramachandran S VasanDepartments of Medicine& Epidemiology, Boston University, MA (R.S.V.).ORCID 0000-0001-7357-5970
Ken RiceDepartment of Biostatistics (C.A.L., D.J., M.P.C., S.M.G., B.M., C.C.L., K.R.), University of Washington, Seattle.ORCID 0000-0002-3071-7278
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center (C.K.).ORCID 0000-0002-7986-8560
James S PankowDivision of Epidemiology & Community Health (W.T., J.S.P.), University of Minnesota, Minneapolis.ORCID 0000-0001-7076-483X
Nicholas L SmithCardiovascular Health Research Unit (J.B., S.R.H., K.L.W., B.M.P., N.L.S.), University of Washington, Seattle.ORCID 0000-0003-3483-353X
Nathan PankratzDepartment of Laboratory Medicine & Pathology, School of Medicine (K.M.B., N.P.), University of Minnesota, Minneapolis.ORCID 0000-0001-5958-693X
University of Minnesota · USMRC Biostatistics Unit · GBWashington State Department of Health · USBroad Institute · USBaylor College of Medicine · USBoston University · USFramingham Heart Study · USThe University of Texas Health Science Center at Houston · USUniversity of Washington · USBrigham and Women's Hospital · USCape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa · ZAHarvard University · USMaine Farmland Trust · USMayo Clinic in Arizona · USMayo Clinic in Florida · USThe Ohio State University · USTwitter (United States) · USUniversity of North Carolina at Chapel Hill · US

Funding

Cardiovascular Genomics and Bioinformatics projectsZIAHL006170 · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · 2025 to 2025
$3.3M
EPIDEMIOLOGY OF VENOUS THROMBOSIS AND PULMONARY EMBOLISMR01HL059367 · UNIVERSITY OF MINNESOTA TWIN CITIES · 1998 to 2005
$1.9M
Structural and Nucleotide Variation as Genomic Risks for Venous Thrombosis: TOPMED and INVENT CollaborationR01HL154385 · NHLBI · UNIVERSITY OF WASHINGTON · PI NATHAN D PANKRATZ, NICHOLAS L SMITH · 2023 to 2023
$721k
NHLBI NIH HHS HHSN268201000001INHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL134894NHLBI NIH HHS R01 HL154385NHLBI NIH HHS U01 HL120393
6 · The paper itself

Abstract

backgroundRisk for venous thromboembolism has a strong genetic component. Whole genome sequencing from the TOPMed program (Trans-Omics for Precision Medicine) allowed us to look for new associations, particularly rare variants missed by standard genome-wide association studies.

methodsThe 3793 cases and 7834 controls (11.6% of cases were individuals of African, Hispanic/Latino, or Asian ancestry) were analyzed using a single variant approach and an aggregate gene-based approach using our primary filter (included only loss-of-function and missense variants predicted to be deleterious) and our secondary filter (included all missense variants).

resultsSingle variant analyses identified associations at 5 known loci. Aggregate gene-based analyses identified only

conclusionsHere, we have demonstrated the importance of using multiple variant filtering strategies, as we detected additional genes when filtering variants based on their predicted deleteriousness, frequency, and presence on the most expressed isoforms. Our primary analyses did not identify new candidate loci; thus larger follow-up studies are needed to replicate the novel

Indexed as

Genome-Wide Association StudyVenous ThromboembolismGene FrequencyGenetic Predisposition to DiseaseHumansPrecision Medicinecardiovascular diseasesgeneticsgenome-wide association studysingle nucleotide polymorphismsvenous thromboembolismwhole genome sequencing

Identifiers

PMID36960714
PMCPMC10151032
OpenAlexW4360813422

What Socratic 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 Socratic graph.