Authors: 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, Pengfei
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Relation: Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, et al. "Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits." Genome Medicine, 14, (2022) Springer Nature: https://doi.org/10.1186/s13073-022-01113-y.; https://hdl.handle.net/1911/113773; s13073-022-01113-y; https://doi.org/10.1186/s13073-022-01113-y
Authors: James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.
Subject Terms: disease gene discovery, exome, semantic similarity, variant prioritization
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Relation: James, Regis A., Campbell, Ian M., Chen, Edward S., et al. "A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics." Genome Medicine, 8, no. 13 (2016) BioMed Central: https://doi.org/10.1186/s13073-016-0261-8.; https://hdl.handle.net/1911/94365; https://doi.org/10.1186/s13073-016-0261-8