Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …

The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the
regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for …

We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …

Quantification of the tolerance of protein sites to genetic variation has become a cornerstone
of variant interpretation. We hypothesize that the constraint on missense variation at …

Rare genetic disorders, while individually rare, are collectively common. They represent
some of the most severe disorders affecting patients worldwide with significant morbidity and …

Missense variant interpretation is challenging. Essential regions for protein function are
conserved among gene-family members, and genetic variants within these regions are …

Background Studies have identified many common genetic associations that influence renal
function and all-cause CKD, but these explain only a small fraction of variance in these traits …

The X‐linked filaminopathies represent a diverse group of clinical conditions, all caused by
variants in the gene FLNA. FLNA encodes the widely expressed actin binding protein …

Background A common approach for sequencing studies is to do joint-calling and store
variants of all samples in a single file. If new samples are continually added or controls are …