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Long-read nanopore sequencing reveals novel common genetic structural variants in Prader-Willi syndrome and associated psychosis

2022-07-19

Abstract excerpt

Prader-Willi syndrome (PWS) is associated with severe hyperphagia, a specific behavioral phenotype and a high risk for developing psychotic episodes. Despite intense research, how genes within the PWS locus contribute to the phenotype remains elusive. In this study, we sequenced the whole genomes of 20 individuals with PWS using long-read nanopore sequencing by Oxford Nanopore Technologies (ONT). We demonstrate th...

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Literature Corpus work
aef3f068-0eca-5abc-8fff-0806704b6cb9
DOI
10.1101/2022.07.18.22277235
Open publication

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Long-read nanopore sequencing reveals novel common genetic structural variants in Prader-Willi syndrome and associated psychosisDOI 10.1101/2022.07.18.22277235
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