Browsing by Author "Bocanegra, Francia"
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Item Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits(Springer Nature, 2022) Yuan, Bo; Schulze, Katharina V.; Assia Batzir, Nurit; Sinson, Jefferson; Dai, Hongzheng; Zhu, Wenmiao; Bocanegra, Francia; Fong, Chin-To; Holder, Jimmy; Nguyen, Joanne; Schaaf, Christian P.; Yang, Yaping; Bi, Weimin; Eng, Christine; Shaw, Chad; Lupski, James R.; Liu, PengfeiIn 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.