Associated Papers
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
37443081 (PubMed )
Supplement: 13073_2023_1199_MOESM7_ESM.xlsx › HGMD
Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1.
Zheng F et al.
Journal of Clinical Medicine, 2023
36675402 (PubMed )
Supplement: jcm-12-00473-s001.zip › jcm-2096579-SI.pdf
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening
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