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UnknownUMI-Gen: A UMI-based read simulator for variant calling evaluation in paired-end sequencing NGS libraries.
Not available
S-EPMC7484502 | biostudies-literature
UnknownPhenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Not available
S-EPMC9132874 | biostudies-literature
UnknownDisruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Not available
S-EPMC4890241 | biostudies-literature
UnknownA 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Not available
S-EPMC3494011 | biostudies-literature
UnknownEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Not available
S-EPMC10853222 | biostudies-literature
UnknownGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Not available
S-EPMC3609646 | biostudies-literature
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