A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

The known genetic architecture of blood pressure now comprises> 30 genes, with rare
variants resulting in monogenic forms of hypertension or hypotension and> 1,477 common …

Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …

Single-cell RNA sequencing (scRNA-seq) provides unique insights into the pathology and
cellular origin of disease. We introduce single-cell disease relevance score (scDRS), an …

Skeletal dysplasias are a diverse group of heritable diseases affecting bone and cartilage
growth. Throughout the years, the molecular defect underlying many of the diseases has …

Historically, craniofacial genetic research has understandably focused on identifying the
causes of craniofacial anomalies and it has only been within the last 10 years, that there has …

Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …

Genetic effects on gene expression and splicing can be modulated by cellular and
environmental factors; yet interactions between genotypes, cell type, and treatment have not …