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

Yuan, BoSchulze, Katharina V.Assia Batzir, NuritSinson, JeffersonDai, HongzhengZhu, WenmiaoBocanegra, FranciaFong, Chin-ToHolder, JimmyNguyen, JoanneSchaaf, Christian P.Yang, YapingBi, WeiminEng, ChristineShaw, ChadLupski, James R.Liu, Pengfei2022-10-282022-10-282022Yuan, 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." <i>Genome Medicine,</i> 14, (2022) Springer Nature: https://doi.org/10.1186/s13073-022-01113-y.https://hdl.handle.net/1911/113773In 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.engThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsJournal articles13073-022-01113-yhttps://doi.org/10.1186/s13073-022-01113-y