Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.

Schmitz, Matthew J; Aarabi, Mahmoud; Bashar, Ali; Rajkovic, Aleksandar; Gregg, Anthony R; Yatsenko, Svetlana A

Schmitz, Matthew J; Aarabi, Mahmoud; Bashar, Ali; Rajkovic, Aleksandar; Gregg, Anthony R; Yatsenko, Svetlana A.

Afiliación

Schmitz MJ; Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Aarabi M; UPMC Medical Genetics & Genomics Laboratories, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania, USA.
Bashar A; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Rajkovic A; Department of Laboratory Medicine and Pathobiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Gregg AR; Faculty of Science, York University, Toronto, Ontario, Canada.
Yatsenko SA; Departments of Pathology and Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA.

Clin Genet ; 102(2): 87-97, 2022 08.

Article en En | MEDLINE | ID: mdl-35532184

Asunto(s)

Exoma; Variación Genética; Genes Recesivos; Genómica; Heterocigoto; Humanos

Palabras clave

ClinVar; autosomal recessive conditions; carrier screening; genome aggregation database; genome sequencing data; inheritance

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Exoma Límite: Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Dinamarca

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