Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Sequencing studies in human genetics: design and interpretation. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Mutational heterogeneity in cancer and the search for new cancer-associated genes. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Evaluating empirical bounds on complex disease genetic architecture. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Systems biology and the analysis of genetic variation. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Searching for missing heritability: designing rare variant association studies. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
