Haplotype-resolved genome sequencing: experimental methods and applications.
Nat Rev Genet
; 16(6): 344-58, 2015 Jun.
Article
en En
| MEDLINE
| ID: mdl-25948246
Human genomes are diploid and, for their complete description and interpretation, it is necessary not only to discover the variation they contain but also to arrange it onto chromosomal haplotypes. Although whole-genome sequencing is becoming increasingly routine, nearly all such individual genomes are mostly unresolved with respect to haplotype, particularly for rare alleles, which remain poorly resolved by inferential methods. Here, we review emerging technologies for experimentally resolving (that is, 'phasing') haplotypes across individual whole-genome sequences. We also discuss computational methods relevant to their implementation, metrics for assessing their accuracy and completeness, and the relevance of haplotype information to applications of genome sequencing in research and clinical medicine.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Haplotipos
/
Genoma Humano
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Nat Rev Genet
Asunto de la revista:
GENETICA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Estados Unidos