Abstract

Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million "singly unique nucleotide" positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identify human-specific expansions in genes associated with brain development, reveal extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species. Our approach makes similar to 1000 genes accessible to genetic studies of disease association.

Autore Pugliese

• Antonacci Francesca

Tutti gli autori

• ANTONACCI F.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2010

ISSN

0036-8075

ISBN

Non Disponibile

Numero di citazioni Wos

360

Ultimo Aggiornamento Citazioni

Non Disponibile

Numero di citazioni Scopus

377

Ultimo Aggiornamento Citazioni

Non Disponibile

Settori ERC

Non Disponibile

Codici ASJC

Non Disponibile