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|Title:||Dense and accurate whole-chromosome haplotyping of individual genomes|
Sanders, Ashley D.
Korbel, Jan O.
Lansdorp, Peter M.
|Publisher/Platform:||Nature Publishing Group|
|Year of Publication:||2017|
|Publikation type:||Journal Article|
|Abstract:||The diploid nature of the human genome is neglected in many analyses done today, where a genome is perceived as a set of unphased variants with respect to a reference genome. This lack of haplotype-level analyses can be explained by a lack of methods that can produce dense and accurate chromosome-length haplotypes at reasonable costs. Here we introduce an integrative phasing strategy that combines global, but sparse haplotypes obtained from strand-specific single-cell sequencing (Strand-seq) with dense, yet local, haplotype information available through long-read or linked-read sequencing. We provide comprehensive guidance on the required sequencing depths and reliably assign more than 95% of alleles (NA12878) to their parental haplotypes using as few as 10 Strand-seq libraries in combination with 10-fold coverage PacBio data or, alternatively, 10X Genomics linked-read sequencing data. We conclude that the combination of Strand-seq with different technologies represents an attractive solution to chart the genetic variation of diploid genomes.|
|DOI of the first publication:||10.1038/s41467-017-01389-4|
|Link to this record:||hdl:20.500.11880/27715|
|Date of registration:||7-Sep-2019|
|Faculty:||MI - Fakultät für Mathematik und Informatik|
|Department:||MI - Informatik|
|Professorship:||MI - Prof. Dr. Tobias Marschall|
|Collections:||UniBib – Die Universitätsbibliographie|
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