Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Medientyp: E-Artikel
Titel: Sequencing individual genomes with recurrent genomic disorder deletions : an approach to characterize genes for autosomal recessive rare disease traits
Beteiligte: Yuan, Bo [Verfasser:in]; Schulze, Katharina V. [Verfasser:in]; Assia Batzir, Nurit [Verfasser:in]; Sinson, Jefferson [Verfasser:in]; Dai, Hongzheng [Verfasser:in]; Zhu, Wenmiao [Verfasser:in]; Bocanegra, Francia [Verfasser:in]; Fong, Chin-To [Verfasser:in]; Holder, Jimmy [Verfasser:in]; Nguyen, Joanne [Verfasser:in]; Schaaf, Christian P. [Verfasser:in]; Yang, Yaping [Verfasser:in]; Bi, Weimin [Verfasser:in]; Eng, Christine [Verfasser:in]; Shaw, Chad [Verfasser:in]; Lupski, James R. [Verfasser:in]; Liu, Pengfei [Verfasser:in]
Erschienen: 30 September 2022
Erschienen in: Genome medicine ; 14(2022), Artikel-ID 113, Seite 1-24
Sprache: Englisch
DOI: 10.1186/s13073-022-01113-y
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Beschreibung: In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetics approach to enhance gene discovery and molecular diagnostics.
Zugangsstatus: Freier Zugang

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