Accurate, scalable and integrative haplotype estimation.

Détails

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Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_B07D06940616
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Accurate, scalable and integrative haplotype estimation.
Périodique
Nature communications
Auteur⸱e⸱s
Delaneau O., Zagury J.F., Robinson M.R., Marchini J.L., Dermitzakis E.T.
ISSN
2041-1723 (Electronic)
ISSN-L
2041-1723
Statut éditorial
Publié
Date de publication
28/11/2019
Peer-reviewed
Oui
Volume
10
Numéro
1
Pages
5436
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Résumé
The number of human genomes being genotyped or sequenced increases exponentially and efficient haplotype estimation methods able to handle this amount of data are now required. Here we present a method, SHAPEIT4, which substantially improves upon other methods to process large genotype and high coverage sequencing datasets. It notably exhibits sub-linear running times with sample size, provides highly accurate haplotypes and allows integrating external phasing information such as large reference panels of haplotypes, collections of pre-phased variants and long sequencing reads. We provide SHAPEIT4 in an open source format and demonstrate its performance in terms of accuracy and running times on two gold standard datasets: the UK Biobank data and the Genome In A Bottle.
Mots-clé
Biological Specimen Banks, Data Interpretation, Statistical, Datasets as Topic, Genotype, Haplotypes, High-Throughput Nucleotide Sequencing, Humans, Polymorphism, Single Nucleotide, Sample Size, Sequence Analysis, DNA, Software
Pubmed
Web of science
Open Access
Oui
Création de la notice
11/12/2019 9:01
Dernière modification de la notice
30/04/2021 7:13
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