Showing results (1751-1760 of 5,734) with videos related to
Sort By:
Pageof 574
Human Mutation|August 30, 2018
Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American populationCandelaria Vergara, Samantha M Bomotti, Cristian Valencia, et al.Human Mutation|October 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharingJuliann M Savatt, Danielle R Azzariti, W Andrew Faucett, et al.Human Mutation|October 13, 2018
The progression of the ClinGen gene clinical validity classification over timeJennifer L McGlaughon, Jennifer L Goldstein, Courtney Thaxton, et al.Human Mutation|October 13, 2018
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomicsAlice B Popejoy, Deborah I Ritter, Kristy Crooks, et al.Human Mutation|October 13, 2018
ClinGen Allele Registry links information about genetic variantsPiotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, et al.Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.Human Mutation|October 13, 2018
ClinGen advancing genomic data-sharing standards as a GA4GH driver projectLena Dolman, Angela Page, Lawrence Babb, et al.Human Mutation|October 13, 2018
Updated recommendation for the benign stand-alone ACMG/AMP criterionRajarshi Ghosh, Steven M Harrison, Heidi L Rehm, et al.Human Mutation|October 13, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencingIsabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, et al.Pageof 574