Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

Lung cancer is the most common cause of cancer-related deaths globally. Although smoking-
related lung cancers continue to account for the majority of diagnoses, smoking rates have …

Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is a web-based genomic
visualization and analysis tool that serves data to over 7,000 distinct users per day …

Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

Comprehensively mapping the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics,,–. The All of Us Research Program is a …

The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …

Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …

Measures of selective constraint on genes have been used for many applications, including
clinical interpretation of rare coding variants, disease gene discovery and studies of genome …

Underrepresented populations are often excluded from genomic studies due in part to a lack
of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human …

Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …