Evidence map›Paper›PMID 25439724›Full record

ArticleAmerican journal of human genetics2014

PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

Jeffrey Staples, Dandi Qiao, Michael H Cho, Edwin K Silverman, University of Washington Center for Mendelian Genomics, Deborah A Nickerson, Jennifer E Below

Abstract readValidation Study
In one paragraph

Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
109citing 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

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

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
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49 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

7 authors.

Jeffrey StaplesDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Dandi QiaoChanning Division of Network Medicine, Harvard School of Public Health, Boston, MA 02115, USA; Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA.
Michael H ChoChanning Division of Network Medicine, Harvard School of Public Health, Boston, MA 02115, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Edwin K SilvermanChanning Division of Network Medicine, Harvard School of Public Health, Boston, MA 02115, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
University of Washington Center for Mendelian Genomics
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: debnick@uw.edu.
Jennifer E BelowEpidemiology, Human Genetics, & Environmental Sciences, University of Texas Health Science Center, Houston, TX 77225, USA. Electronic address: jennifer.e.below@uth.tmc.edu.

Funding

UW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Identifying Genetic Determinants of Severe, Early-Onset COPDR01HL113264 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2012 to 2016
$6.0M
Identification and Replication of Type 2 Diabetes Genes in Mexican AmericansU01DK085501 · NIDDK · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI HANIS, CRAIG L · 2009 to 2013
$2.7M
Genetics of Type 2 Diabetes in Starr County, TexasR01DK073541 · NIDDK · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI HANIS, CRAIG L · 2007 to 2010
$2.2M
Re-Engineering Translational Research at the University of ChicagoTL1TR000432 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$289k
NCATS NIH HHS TL1 TR000432NHGRI NIH HHS 1U54HG006493NHGRI NIH HHS HG006493NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NHLBI NIH HHS R01 HL113264NIDDK NIH HHS DK073541NIDDK NIH HHS DK085501NIDDK NIH HHS R01 DK073541NIDDK NIH HHS U01 DK085501
6 · The paper itself

Abstract

Understanding and correctly utilizing relatedness among samples is essential for genetic analysis; however, managing sample records and pedigrees can often be error prone and incomplete. Data sets ascertained by random sampling often harbor cryptic relatedness that can be leveraged in genetic analyses for maximizing power. We have developed a method that uses genome-wide estimates of pairwise identity by descent to identify families and quickly reconstruct and score all possible pedigrees that fit the genetic data by using up to third-degree relatives, and we have included it in the software package PRIMUS (Pedigree Reconstruction and Identification of the Maximally Unrelated Set). Here, we validate its performance on simulated, clinical, and HapMap pedigrees. Among these samples, we demonstrate that PRIMUS can verify reported pedigree structures and identify cryptic relationships. Finally, we show that PRIMUS reconstructed pedigrees, all of which were previously unknown, for 203 families from a cohort collected in Starr County, TX (1,890 samples).

Indexed as

PedigreeSoftwareBase SequenceComputer SimulationExomeGene FrequencyGenetics, PopulationHumansMolecular Sequence DataPulmonary Disease, Chronic ObstructiveSequence Analysis, DNATexas

Identifiers

PMID25439724
PMCPMC4225580

What OpenQuestion holds

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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.