Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores.

LeMaster, Cas; Schwendinger-Schreck, Carl; Ge, Bing; Cheung, Warren A; McLennan, Rebecca; Johnston, Jeffrey J; Pastinen, Tomi; Smail, Craig.

Afiliação

LeMaster C; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.
Schwendinger-Schreck C; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.
Ge B; McGill University, Montreal, Quebec, Canada.
Cheung WA; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.
McLennan R; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.
Johnston JJ; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.
Pastinen T; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.
Smail C; Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.

medRxiv ; 2024 May 16.

Article em En | MEDLINE | ID: mdl-38562793

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article