Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Autor: Dharmadhikari, Avinash V.1, Ghosh, Rajarshi2, Yuan, Bo1,2, Liu, Pengfei1,2, Dai, Hongzheng1,2, Al Masri, Sami1, Scull, Jennifer1,2, Posey, Jennifer E.2, Jiang, Allen H.3, He, Weimin1, Vetrini, Francesco1, Braxton, Alicia A.1,2, Ward, Patricia1,2, Chiang, Theodore4, Qu, Chunjing1, Gu, Shen2, Shaw, Chad A.1,2, Smith, Janice L.1,2, Lalani, Seema1,2, Stankiewicz, Pawel1,2
Zdroj: Genome Medicine. 5/17/2019, Vol. 11 Issue 1, pN.PAG-N.PAG. 1p.
Databáze: Academic Search Ultimate
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