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

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dc.citation.articleNumber113en_US
dc.citation.journalTitleGenome Medicineen_US
dc.citation.volumeNumber14en_US
dc.contributor.authorYuan, Boen_US
dc.contributor.authorSchulze, Katharina V.en_US
dc.contributor.authorAssia Batzir, Nuriten_US
dc.contributor.authorSinson, Jeffersonen_US
dc.contributor.authorDai, Hongzhengen_US
dc.contributor.authorZhu, Wenmiaoen_US
dc.contributor.authorBocanegra, Franciaen_US
dc.contributor.authorFong, Chin-Toen_US
dc.contributor.authorHolder, Jimmyen_US
dc.contributor.authorNguyen, Joanneen_US
dc.contributor.authorSchaaf, Christian P.en_US
dc.contributor.authorYang, Yapingen_US
dc.contributor.authorBi, Weiminen_US
dc.contributor.authorEng, Christineen_US
dc.contributor.authorShaw, Chaden_US
dc.contributor.authorLupski, James R.en_US
dc.contributor.authorLiu, Pengfeien_US
dc.date.accessioned2022-10-28T17:43:09Zen_US
dc.date.available2022-10-28T17:43:09Zen_US
dc.date.issued2022en_US
dc.description.abstractIn 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.en_US
dc.identifier.citationYuan, 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.en_US
dc.identifier.digitals13073-022-01113-yen_US
dc.identifier.doihttps://doi.org/10.1186/s13073-022-01113-yen_US
dc.identifier.urihttps://hdl.handle.net/1911/113773en_US
dc.language.isoengen_US
dc.publisherSpringer Natureen_US
dc.rightsThis 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.en_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/.en_US
dc.titleSequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsen_US
dc.typeJournal articleen_US
dc.type.dcmiTexten_US
dc.type.publicationpublisher versionen_US
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