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.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Porubsky D,Garg S,Sanders AD,Korbel JO,Guryev V,Lansdorp PM,Marschall Tdoi
10.1038/s41467-017-01389-4subject
Has Abstractpub_date
2017-11-03 00:00:00pages
1293issue
1issn
2041-1723pii
10.1038/s41467-017-01389-4journal_volume
8pub_type
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