Evidence map›Paper›PMID 30514702›Full record

ArticleGenome research2019

Comparison and assessment of family- and population-based genotype imputation methods in large pedigrees.

Ehsan Ullah, Raghvendra Mall, Mostafa M Abbas, Khalid Kunji, Alejandro Q Nato, Halima Bensmail, Ellen M Wijsman, Mohamad Saad

Abstract readComparative Study
In one paragraph

Article in Genome research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. 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

8 authors.

Ehsan Ullah *Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Raghvendra Mall *Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Mostafa M Abbas *Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Khalid Kunji *Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Alejandro Q NatoDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195-9460, USA.
Halima BensmailQatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Ellen M WijsmanDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington 98195-9460, USA.
Mohamad SaadQatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar.

Funding

THERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI JAYADEY, SUMAN · 1985 to 2019
$57.2M
Genomic Sequencing to Establish a Macaque Genotype and Phenotype Research ResourceR24OD021324 · OD · OREGON HEALTH & SCIENCE UNIVERSITY · PI BIMBER, BENJAMIN, WALL, JEFFREY D · 2016 to 2023
$7.7M
Methods for the Genetic Epidemiology of Complex TraitsR37GM046255 · NIGMS · UNIVERSITY OF WASHINGTON · PI THOMPSON, ELIZABETH ALISON · 2008 to 2017
$4.2M
The Genomics of Dyslexia and its Component PhenotypesR01HD088431 · NICHD · UNIVERSITY OF WASHINGTON · PI RASKIND, WENDY H, WIJSMAN, ELLEN M · 2017 to 2021
$3.1M
NIA NIH HHS P50 AG005136NICHD NIH HHS R01 HD088431NIGMS NIH HHS R37 GM046255NIH HHS R24 OD021324
6 · The paper itself

Abstract

Genotype imputation is widely used in genome-wide association studies to boost variant density, allowing increased power in association testing. Many studies currently include pedigree data due to increasing interest in rare variants coupled with the availability of appropriate analysis tools. The performance of population-based (subjects are unrelated) imputation methods is well established. However, the performance of family- and population-based imputation methods on family data has been subject to much less scrutiny. Here, we extensively compare several family- and population-based imputation methods on family data of large pedigrees with both European and African ancestry. Our comparison includes many widely used family- and population-based tools and another method, Ped_Pop, which combines family- and population-based imputation results. We also compare four subject selection strategies for full sequencing to serve as the reference panel for imputation: GIGI-Pick, ExomePicks, PRIMUS, and random selection. Moreover, we compare two imputation accuracy metrics: the Imputation Quality Score and Pearson's correlation

Indexed as

FamilyGenome, HumanBlack PeopleFemaleHumansMaleWhite People

Identifiers

PMID30514702
PMCPMC6314157

What OpenQuestion 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 OpenQuestion graph.