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Works
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Analysis of protein-coding genetic variation in 60,706 humans
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Defining the human reference protein-coding gene set.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
