Automatized detection of uniparental disomies in a large cohort.

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Title: Automatized detection of uniparental disomies in a large cohort.
Authors: Moch J; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Radtke M; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Liehr T; Institute of Human Genetics, Jena University, Jena, Germany., Eggermann T; Institute of Human Genetics and Genomic Medicine, Aachen University, Aachen, Germany., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hentschel J; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Schumann I; Institute of Human Genetics, Leipzig University, Leipzig, Germany. isabell.schumann@medizin.uni-leipzig.de.
Source: Human genetics [Hum Genet] 2024 Aug; Vol. 143 (8), pp. 955-964. Date of Electronic Publication: 2024 Jul 16.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1432-1203
DOI:10.1007/s00439-024-02687-w