Despite the importance of population descriptors in human genomics research, many scientists struggle to translate evolving ethical guidelines into their computational workflows. To characterize this ...

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

Genetic association tests prioritize candidate genes based on different criteria.

Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...

An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms

Whole genome sequencing has identified over a billion non-coding variants in humans, while GWAS has revealed the non-coding genome as a significant contributor to disease. However, prioritizing causal...

The human X-chromosome contains hundreds of genes and has well-established impacts on sex differences and traits. However, the X-chromosome is often excluded from many genetic analyses, limiting broad...

This Perspective discusses the definitions of ‘broad’ that have been used in the context of sharing of human genomic data and proposes a clarified and reformed terminology for describing genomic data ...

A host of factors figure into whether someone is female, male or somewhere in between

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA seq...

Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by anal...

Despite the widespread impacts of human genetics research, few researchers are trained to evaluate how their work impacts and is impacted by society. In response, Patel et al. describe how a group of ...

A genome build is the reference sequence to which RNA-sequencing reads are aligned. We found changing the human genome builds (hg19, hg38, and CHM13) impacts interpretation of approximately 39% of gen...