Eintrag weiter verarbeiten
Dense and accurate whole-chromosome haplotyping of individual genomes
Gespeichert in:
| Zeitschriftentitel: | Nature Communications |
|---|---|
| Personen und Körperschaften: | , , , , , , |
| In: | Nature Communications, 8, 2017, 1 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Springer Science and Business Media LLC
|
| Schlagwörter: |
| Zusammenfassung: | <jats:title>Abstract</jats:title><jats:p>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.</jats:p> |
|---|---|
| ISSN: |
2041-1723
|
| DOI: | 10.1038/s41467-017-01389-4 |