Evidence map›Paper›PMID 30563452›Full record

ArticleGenetics, selection, evolution : GSE2018

Hybrid peeling for fast and accurate calling, phasing, and imputation with sequence data of any coverage in pedigrees.

Andrew Whalen, Roger Ros-Freixedes, David L Wilson, Gregor Gorjanc, John M Hickey

Open access · goldAbstract read
In one paragraph

Article in Genetics, selection, evolution : GSE, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
5.1field-weighted citation impact, top 4% 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

27 citing papers in PubMed, 78 citations in OpenAlex.

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  16. Genetic variation in recombination rate in the pig.Genetics, selection, evolution : GSE · 2021
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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

5 authors at 1 institution in 1 country.

Andrew WhalenThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK. awhalen@ed.ac.uk.ORCID http://orcid.org/0000-0002-6922-0947
Roger Ros-FreixedesThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK.
David L WilsonThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK.
Gregor GorjancThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK.
John M HickeyThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK.
Roslin Institute · GB

Funding

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

Abstract

backgroundIn this paper, we extend multi-locus iterative peeling to provide a computationally efficient method for calling, phasing, and imputing sequence data of any coverage in small or large pedigrees. Our method, called hybrid peeling, uses multi-locus iterative peeling to estimate shared chromosome segments between parents and their offspring at a subset of loci, and then uses single-locus iterative peeling to aggregate genomic information across multiple generations at the remaining loci.

resultsUsing a synthetic dataset, we first analysed the performance of hybrid peeling for calling and phasing genotypes in disconnected families, which contained only a focal individual and its parents and grandparents. Second, we analysed the performance of hybrid peeling for calling and phasing genotypes in the context of a full general pedigree. Third, we analysed the performance of hybrid peeling for imputing whole-genome sequence data to non-sequenced individuals in the population. We found that hybrid peeling substantially increased the number of called and phased genotypes by leveraging sequence information on related individuals. The calling rate and accuracy increased when the full pedigree was used compared to a reduced pedigree of just parents and grandparents. Finally, hybrid peeling imputed accurately whole-genome sequence to non-sequenced individuals.

conclusionsWe believe that this algorithm will enable the generation of low cost and high accuracy whole-genome sequence data in many pedigreed populations. We make this algorithm available as a standalone program called AlphaPeel.

Indexed as

AlgorithmsAllelesAnimalsComputational BiologyGene FrequencyGenetic VariationGenomeGenome-Wide Association StudyGenomicsGenotypeGenotyping TechniquesHaplotypesHigh-Throughput Nucleotide SequencingHumansModels, GeneticPolymorphism, Single Nucleotide

Identifiers

PMID30563452
PMCPMC6299538
OpenAlexW2774055317

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.