GenomicsThe American Journal of Human GeneticsPeer-reviewed
Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes
Jeffrey C. Staples, Evan K. Maxwell, Nehal Gosalia…·Jeffrey G. Reid
The paper analyzes cryptic relatedness in a large exome cohort, identifies numerous close relationships, reconstructs pedigrees, and demonstrates their utility in improving mutation phasing and identifying de novo mutations.
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