Evidence map›Paper›PMID 25519369›Full record

ArticleBMC proceedings2014

Imputation in families using a heuristic phasing approach.

August N Blackburn, Angela K Dean, Donna M Lehman

Abstract read
In one paragraph

Article in BMC proceedings, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.Journal of computational biology : a journal of computational molecular cell biology · 2019
    Article
  2. Article
  3. 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

3 authors.

August N BlackburnDepartment of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, 7702 Floyd Curl Road, San Antonio, TX 78229, USA.
Angela K DeanDepartment of Medicine/Clinical Epidemiology, University of Texas Health Science Center at San Antonio, 7702 Floyd Curl Road, San Antonio, TX 78229, USA.
Donna M LehmanDepartment of Medicine/Clinical Epidemiology, University of Texas Health Science Center at San Antonio, 7702 Floyd Curl Road, San Antonio, TX 78229, USA.

Funding

GENETIC ANALYSIS OF COMMON DISEASES: AN EVALUATIONR01GM031575 · NIGMS · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI ALMASY, LAURA A. · 1985 to 2016
$7.8M
NIGMS NIH HHS R01 GM031575
6 · The paper itself

Abstract

Whole genome sequencing (WGS) remains prohibitively expensive, which has encouraged the development of methods to impute WGS data into nonsequenced individuals using a framework of single nucleotide polymorphisms genotyped for genome-wide association studies (GWAS). Although successful methods have been developed for cohorts of unrelated individuals, current imputation methods in related individuals are limited by pedigree size, by the distance of relationships, or by computation time. In this article, we describe a method for imputation in arbitrarily shaped multigenerational pedigrees that can impute genotypes across distantly related individuals based on identity by descent. We evaluate this approach using GWAS data and apply this approach to WGS data distributed for Genetic Analysis Workshop 18.

Identifiers

PMID25519369
PMCPMC4143623

What OpenQuestion holds

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LicenceCC BY
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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.