Mitochondria are critical for brain development and homeostasis. Therefore, pathogenic
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …

Purpose Existing resources that characterize the essentiality status of genes are based on
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …

Identifying causal mutations accelerates genetic disease diagnosis, and therapeutic
development. Missense variants present a bottleneck in genetic diagnoses as their effects …

Directed acyclic graphs are used to model the causal structure of a system.``Causal
discovery''describes the problem of learning this structure from data. When data is an …

Abstract The Variant Call Format (VCF) is widely used in genome sequencing but scales
poorly. For instance, we estimate a 150,000 genome VCF would occupy 900 TiB, making it …

Cleft lip and cleft palate are among the most common congenital anomalies and are the
result of incomplete fusion of embryonic craniofacial processes or palatal shelves …