Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank

Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that quickly and accurately processes large sequencing datasets and applied it to UK Biobank (UKB) whole-genome and whole-exome sequencing data. W...

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Detalles Bibliográficos
Autores principales: Hofmeister, Robin J., Ribeiro, Diogo M., Rubinacci, Simone, Delaneau, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335929/
https://www.ncbi.nlm.nih.gov/pubmed/37386248
http://dx.doi.org/10.1038/s41588-023-01415-w

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