Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Typical genotyping workflows map reads to a reference genome before identifying genetic variants. Generating such alignments introduces reference biases and comes with substantial computational burden. Furthermore, short-read lengths limit the ability to characterize repetitive genomic regions, whic...

Descripción completa

Detalles Bibliográficos
Autores principales: Ebler, Jana, Ebert, Peter, Clarke, Wayne E., Rausch, Tobias, Audano, Peter A., Houwaart, Torsten, Mao, Yafei, Korbel, Jan O., Eichler, Evan E., Zody, Michael C., Dilthey, Alexander T., Marschall, Tobias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2022
Materias:
Technical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005351/
https://www.ncbi.nlm.nih.gov/pubmed/35410384
http://dx.doi.org/10.1038/s41588-022-01043-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9005351/
https://www.ncbi.nlm.nih.gov/pubmed/35410384
http://dx.doi.org/10.1038/s41588-022-01043-w

Ejemplares similares