Evidence map›Paper›PMID 32467963›Full record

ArticleBioinformatics (Oxford, England)2020

AlphaFamImpute: high-accuracy imputation in full-sib families from genotype-by-sequencing data.

Andrew Whalen, Gregor Gorjanc, John M Hickey

Open access · hybridAbstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.3field-weighted citation impact, top 12% 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

12 citing papers in PubMed, 43 citations in OpenAlex.

  1. Article
  2. Article
  3. Reconstructing parent genomes using siblings and other relatives.bioRxiv : the preprint server for biology · 2024
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. 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

3 authors at 1 institution in 1 country.

Andrew WhalenThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian EH25 9RG, UK.
Gregor GorjancThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian EH25 9RG, UK.
John M HickeyThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian EH25 9RG, UK.
Roslin Institute · GB

Funding

Biotechnology and Biological Sciences Research Council BB/J004235/1Biotechnology and Biological Sciences Research Council BB/L020467/1Biotechnology and Biological Sciences Research Council BB/L020726/1Biotechnology and Biological Sciences Research Council BB/M009254/1Biotechnology and Biological Sciences Research Council BB/N004728/1Biotechnology and Biological Sciences Research Council BB/N004736/1Biotechnology and Biological Sciences Research Council BB/N006178/1Biotechnology and Biological Sciences Research Council BB/P018653/1Medical Research Council MR/M000370/1
6 · The paper itself

Abstract

summaryAlphaFamImpute is an imputation package for calling, phasing and imputing genome-wide genotypes in outbred full-sib families from single nucleotide polymorphism (SNP) array and genotype-by-sequencing (GBS) data. GBS data are increasingly being used to genotype individuals, especially when SNP arrays do not exist for a population of interest. Low-coverage GBS produces data with a large number of missing or incorrect naïve genotype calls, which can be improved by identifying shared haplotype segments between full-sib individuals. Here, we present AlphaFamImpute, an algorithm specifically designed to exploit the genetic structure of full-sib families. It performs imputation using a two-step approach. In the first step, it phases and imputes parental genotypes based on the segregation states of their offspring (i.e. which pair of parental haplotypes the offspring inherited). In the second step, it phases and imputes the offspring genotypes by detecting which haplotype segments the offspring inherited from their parents. With a series of simulations, we find that AlphaFamImpute obtains high-accuracy genotypes, even when the parents are not genotyped and individuals are sequenced at <1x coverage. AVAILABILITY AND IMPLEMENTATION: AlphaFamImpute is available as a Python package from the AlphaGenes website http://www.AlphaGenes.roslin.ed.ac.uk/AlphaFamImpute. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Indexed as

GenomePolymorphism, Single NucleotideGenome-Wide Association StudyGenotypeHaplotypesHumans

Identifiers

PMID32467963
PMCPMC7520044
OpenAlexW3031353507

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.