Associated Papers
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
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Genome Medicine, 2023
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1
Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.
Anderson HN et al.
Cardiology in the Young, 2015
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