Stephen E. Lincoln

Curated variation benchmarks for challenging medically relevant autosomal genes

Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Sources of discordance among germ-line variant classifications in ClinVar

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

MG-114 Clinical actionability of multi-gene panel tests for hereditary breast and ovarian cancer (HBOC)

MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia

Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation