Evan E. Eichler

A global reference for human genetic variation

Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution

Finding the missing heritability of complex diseases

Missing heritability and strategies for finding the underlying causes of complex disease

Mapping copy number variation by population-scale genome sequencing

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

Chromosome evolution in eukaryotes: a multi-kingdom perspective

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...

Whole-genome shotgun assembly and comparison of human genome assemblies

We report a whole-genome shotgun assembly (called WGSA) of the human genome generated at Celera in 2001. The Celera-generated shotgun data set consisted of 27 million sequencing...