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. 2024 Apr 19;5(5):101518. doi: 10.1016/j.xcrm.2024.101518
REAGENT or RESOURCE SOURCE IDENTIFIER
Deposited data

Summary table of clinical variants analyzed in BioMe Biobank Mendeley Mendeley: https://doi.org/10.17632/c2g66gycvx.1
Penetrance of clinical variants in UK Biobank Publication and Mendeley https://doi.org/10.1001/jama.2021.23686
https://data.mendeley.com/datasets/v37dmjkbfj/draft?a=a2f58e92-da19-461d-991a46dc70128860
ClinVar database NCBI https://www.ncbi.nlm.nih.gov/clinvar/
Institute for Personalized Medicine summary and access to BioMe Biobank NCBI https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000925.v1.p1
Human reference genome NCBI build 38, GRCh38 Genome Reference Consortium http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc/human/

Software and algorithms

R 3.5.3 R https://cran.r-project.org/
PLINK 2.0 PLINK https://www.cog-genomics.org/plink2/
Variant Effect Predictor Github https://github.com/Ensembl/ensembl-vep