Evan E. Eichler

Howard Hughes Medical Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

193h-index244.9kcitations859works21.52yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(338), Chromosomal and Genetic Variations(301), Genomics and Phylogenetic Studies(217), Genomics and Rare Diseases(185), Genetics and Neurodevelopmental Disorders(149)

Publications811 total

Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination
2025· 1 citedOpen Access
Retroviral insertions contributed to the divergence of human and chimpanzee brains
2025· 1 citedOpen Access
needLR: Long-read structural variant annotation with population-scale frequency estimation.
PubMed·2025
Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation
Cell Genomics·2025· 1 citedOpen Access
GREGoR: accelerating genomics for rare diseases
Nature·2025· 6 citedOpen Access
Structural and transduction patterns of human-specific polymorphic SVA insertions
Mobile DNA·2025Open Access
Epigenetic and evolutionary features of ape subterminal heterochromatin
Genome Research·2025· 1 citedOpen Access
Locityper enables targeted genotyping of complex polymorphic genes
Nature Genetics·2025· 3 citedOpen Access
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
2025· 2 citedOpen Access
Population-scale Long-read Sequencing in the All of Us Research Program
2025· 1 citedOpen Access
A complete diploid human genome benchmark for personalized genomics
2025· 11 citedOpen Access
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders
2025· 3 citedOpen Access
Author Correction: Complex genetic variation in nearly complete human genomes
Nature·2025· 1 citedOpen Access
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
Cell Genomics·2025· 5 citedOpen Access
The Platinum Pedigree: a long-read benchmark for genetic variants
Nature Methods·2025· 9 citedOpen Access
Complex genetic variation in nearly complete human genomes
Nature·2025· 43 citedOpen Access
Pangenome discovery of missing autism variants
2025· 1 citedOpen Access
Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNA
2025· 3 citedOpen Access
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion
2025· 1 citedOpen Access
The Somatic Mosaicism across Human Tissues Network
Nature·2025· 28 citedOpen Access
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Frequent Co-authors

Can Alkan(14), Paul Flicek(9), Charles Lee(9), Jay Shendure(9), Maika Malig(9), Carl Baker(9), Deborah A. Nickerson(8), Heng Li(7), James C. Mullikin(7), Peter H. Sudmant(7), Fereydoun Hormozdiari(7), Jeffrey M. Kidd(7), Richard A. Gibbs(6), Jan O. Korbel(6), Richard K. Wilson(6), Montgomery Slatkin(6), David Reich(6), Brian J. O’Roak(6), Laura Vives(6), Jonathan Sebat(6)