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Preprints

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

genomics more details view paper

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Detection of long repeat expansions from PCR-free whole-genome sequence data

bioinformatics more details view paper

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  • In bioinformatics: 710
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Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper

• Downloaded 739 times
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  • In genomics: 2,848
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