Phasing for medical sequencing using rare variants and large haplotype reference panels

Motivation: There is growing recognition that estimating haplotypes from high coverage sequencing of single samples in clinical settings is an important problem. At the same time very large datasets consisting of tens and hundreds of thousands of high-coverage sequenced samples will soon be availabl...

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Detalles Bibliográficos
Autores principales: Sharp, Kevin, Kretzschmar, Warren, Delaneau, Olivier, Marchini, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920110/
https://www.ncbi.nlm.nih.gov/pubmed/27153703
http://dx.doi.org/10.1093/bioinformatics/btw065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920110/
https://www.ncbi.nlm.nih.gov/pubmed/27153703
http://dx.doi.org/10.1093/bioinformatics/btw065

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