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 |