Evidence map›Paper›PMID 27980632›Full record

ArticleBMC proceedings2016

On combining family- and population-based sequencing data.

Yuriko Katsumata, David W Fardo

Abstract read
In one paragraph

Article in BMC proceedings, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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

1 citing paper in PubMed.

  1. 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

2 authors.

Yuriko KatsumataDepartment of Biostatistics, University of Kentucky College of Public Health, 111 Washington Ave, Lexington, KY 40536-0003 USA.
David W FardoDepartment of Biostatistics, University of Kentucky College of Public Health, 111 Washington Ave, Lexington, KY 40536-0003 USA.

Funding

Multiethnic Study of Type 2 Diabetes GenesU01DK085526 · NIDDK · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, JABLONSKI, KATHLEEN ANN · 2009 to 2014
$15.7M
GENETIC ANALYSIS OF COMMON DISEASES: AN EVALUATIONR01GM031575 · NIGMS · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI ALMASY, LAURA A. · 1985 to 2016
$7.8M
Discovery of Functional Variants in Type 2 Diabetes Genes in Mexican AmericansU01DK085524 · NIDDK · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI BLANGERO, JOHN, DEFRONZO, RALPH A · 2009 to 2019
$5.9M
NIDDM SUSCEPTIBILITY GENES IN MEXICAN-AMERICANSR01DK047482 · NIDDK · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI LEHMAN, DONNA M · 1993 to 2010
$5.4M
Identifying T2D Variants by DNA Sequencing in Multiethnic SamplesU01DK085584 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO, BOEHNKE, MICHAEL L · 2009 to 2013
$4.1M
Identifying variants causal for Type 2 Diabetes in Major human populationsU01DK085545 · NIDDK · UNIVERSITY OF OXFORD · PI CHAN, JULIANA CN, EBRAHIM, SHAH BRIAN · 2009 to 2013
$2.8M
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 GALLBLADDER DISEASE IN MEXICAN AMERICANSR01DK053889 · NIDDK · UNIVERSITY OF TEXAS HLTH SCI CTR SAN ANT · PI DUGGIRALA, RAVINDRANATH · 1998 to 2011
$2.3M
Statistical Genetics Methods for Mixed PathologiesK25AG043546 · NIA · UNIVERSITY OF KENTUCKY · PI FARDO, DAVID WILLIAM · 2013 to 2015
$445k
NIA NIH HHS K25 AG043546NIDDK NIH HHS R01 DK047482NIDDK NIH HHS R01 DK053889NIDDK NIH HHS U01 DK085501NIDDK NIH HHS U01 DK085524NIDDK NIH HHS U01 DK085526NIDDK NIH HHS U01 DK085545NIDDK NIH HHS U01 DK085584NIGMS NIH HHS R01 GM031575
6 · The paper itself

Abstract

Several statistical group-based approaches have been proposed to detect effects of variation within a gene for each of the population- and family-based designs. However, unified tests to combine gene-phenotype associations obtained from these 2 study designs are not yet well established. In this study, we investigated the efficient combination of population-based and family-based sequencing data to evaluate best practices using the Genetic Analysis Workshop 19 (GAW19) data set. Because one design employed whole genome sequencing and the other whole exome sequencing, we examined variants overlapping both data sets. We used the family-based sequence kernel association test (famSKAT) to analyze the family- and population-based data sets separately as well as with a combined data set. These were compared against meta-analysis. Using the combined data, we showed that famSKAT has high power to detect associations between diastolic and/or systolic blood pressures and the genes that have causal variants with large effect sizes, such as

Identifiers

PMID27980632
PMCPMC5133531

What Socratic holds

Textmetadata
LicenceCC BY
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.