Evan E. Eichler

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Short-Read Sequencing Benchmarking with Donor-Specific Assemblies

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-28

• Germline hypomethylation shapes dynamic CpG reservoirs in ape genomes

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-06-19

• needLR: Long-read structural variant annotation with population-scale frequency estimation

  Bioinformatics · 2026-06-16

• Evidence supporting the role of GIGYF2 in synapse development and autism

  Molecular Psychiatry · 2026-06-15

• Complete chromosome 21 centromere sequencing of families with Down syndrome

  The American Journal of Human Genetics · 2026-06-01

• Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

  Nature Communications · 2026-04-18

• Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-04-15

• A segmental duplication-mediated deletion leads to neocentromere formation in orangutans

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-04-11

• Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-17 · 2 citations

• Retroviral insertions contributed to the divergence of human and chimpanzee brainsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-12 · 1 citations

• Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation

  Cell Genomics · 2025-12-02 · 2 citations

• GREGoR: accelerating genomics for rare diseasesPreprint

  Nature · 2025-11-12 · 14 citations

• Structural and transduction patterns of human-specific polymorphic SVA insertions

  Mobile DNA · 2025-11-06 · 1 citations

• Epigenetic and evolutionary features of ape subterminal heterochromatin

  Genome Research · 2025-10-22 · 1 citations

• Locityper enables targeted genotyping of complex polymorphic genes

  Nature Genetics · 2025-10-17 · 8 citations

• A telomere-to-telomere map of somatic mutation burden and functional impact in cancerPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-13 · 6 citations

• Population-scale Long-read Sequencing in the All of Us Research ProgramPreprint

  medRxiv · 2025-10-05 · 3 citations

• A complete diploid human genome benchmark for personalized genomicsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-09-21 · 21 citations

• Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disordersPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-09-05 · 9 citations

• Author Correction: Complex genetic variation in nearly complete human genomes

  Nature · 2025-08-26 · 2 citations