• Publications
  • Influence
An integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classesExpand
  • 1,305
  • 105
  • PDF
The impact of retrotransposons on human genome evolution
Their ability to move within genomes gives transposable elements an intrinsic propensity to affect genome evolution. Non-long terminal repeat (LTR) retrotransposons — including LINE-1, Alu and SVAExpand
  • 1,175
  • 93
  • PDF
Alu repeats and human genomic diversity
During the past 65 million years, Alu elements have propagated to more than one million copies in primate genomes, which has resulted in the generation of a series of Alu subfamilies of differentExpand
  • 1,279
  • 92
  • PDF
Mapping copy number variation by population scale genome sequencing
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotideExpand
  • 946
  • 58
  • PDF
Estimating African American admixture proportions by use of population-specific alleles.
We analyzed the European genetic contribution to 10 populations of African descent in the United States (Maywood, Illinois; Detroit; New York; Philadelphia; Pittsburgh; Baltimore; Charleston, SouthExpand
  • 736
  • 56
  • PDF
The genome of a songbird
The zebra finch is an important model organism in several fields with unique relevance to human neuroscience. Like other songbirds, the zebra finch communicates through learned vocalizations, anExpand
  • 742
  • 52
  • PDF
Alu repeats and human disease.
Alu elements have amplified in primate genomes through a RNA-dependent mechanism, termed retroposition, and have reached a copy number in excess of 500,000 copies per human genome. These elementsExpand
  • 850
  • 44
  • PDF
Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa.
Alu insertion polymorphisms (polymorphisms consisting of the presence/absence of an Alu element at a particular chromosomal location) offer several advantages over other nuclear DNA polymorphisms forExpand
  • 362
  • 38
  • PDF
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and physiologicallyExpand
  • 1,159
  • 35
  • PDF
SVA elements: a hominid-specific retroposon family.
SVA is a composite repetitive element named after its main components, SINE, VNTR and Alu. We have identified 2762 SVA elements from the human genome draft sequence. Genomic distribution analysisExpand
  • 262
  • 34
  • PDF