Jay Shendure

The single-cell transcriptional landscape of mammalian organogenesis

CADD: predicting the deleteriousness of variants throughout the human genome

Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particula...

Exome sequencing as a tool for Mendelian disease gene discovery

Guidelines for investigating causality of sequence variants in human disease

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions

Abstract Next generation exome sequencing (ES) and whole genome sequencing (WGS) are new powerful tools for discovering the gene(s) that underlie Mendelian disorders. To acceler...

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Runs in the Family The power to detect mutations involved in disease by genome sequencing is enhanced when combined with the ability to discover specific mutations that may have...

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

Genomes assembled de novo from short reads are highly fragmented relative to the finished chromosomes of Homo sapiens and key model organisms generated by the Human Genome Proje...

Long-read sequence assembly of the gorilla genome

Improving on the gorilla genome Access to complete, high-quality genomes of nonhuman primates will also help us understand human biology. Gordon et al. used long-read sequencing...

Single-molecule sequencing and conformational capture enable<i>de novo</i>mammalian reference genomes

Abstract The decrease in sequencing cost and increased sophistication of assembly algorithms for short-read platforms has resulted in a sharp increase in the number of species w...