Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

Omics-based technologies have revolutionized our understanding of the coding potential of
the genome. In particular, these studies revealed widespread unannotated open reading …

To the Editor—Ribosome profiling (Ribo-seq) has extended our understanding of the
translational 'vocabulary'of the human genome, uncovering thousands of open reading …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …

Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …

Regulation of transcript structure generates transcript diversity and plays an important role in
human disease,,,,,–. The advent of long-read sequencing technologies offers the opportunity …

Translated small open reading frames (smORFs) can have important regulatory roles and
encode microproteins, yet their genome-wide identification has been challenging. We …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

The ability to predict the impact of cis-regulatory sequences on gene expression would
facilitate discovery in fundamental and applied biology. Here we combine polysome profiling …

Naturally occurring human genetic variants that are predicted to inactivate protein-coding
genes provide an in vivo model of human gene inactivation that complements knockout …