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Analysis of protein-coding genetic variation in 60,706 humans
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
ClinVar data parsing
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Using high-resolution variant frequencies to empower clinical genome interpretation.
