Evan E. Eichler
0000-0002-8246-4014
Publication & Citation Trends
Publications
0 total
Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.
Cited by 2
Semantic Scholar
NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain
Cited by 0
Semantic Scholar
A Complete Genome for the Common Marmoset
Cited by 0
Semantic Scholar
Using the linear references from the pangenome to discover missing autism variants
Cited by 2
Semantic Scholar
A family portrait of the genomic factors shaping tandem repeat mutagenesis
Cited by 0
Semantic Scholar
Evaluating genome assemblies with HMM-Flagger
Cited by 1
Semantic Scholar
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions
Cited by 0
Semantic Scholar
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
Cited by 2
Semantic Scholar
Complex genetic variation in nearly complete human genomes
Cited by 28
Semantic Scholar
Research Topics
Genomic variations and chromosomal abnormalities
(318)
Chromosomal and Genetic Variations
(274)
Genomics and Phylogenetic Studies
(191)
Genomics and Rare Diseases
(169)
Genetics and Neurodevelopmental Disorders
(147)
Affiliations
Broad Institute
Qingdao University
Human Genome Sciences (United States)
University of North Carolina at Chapel Hill
Institució Catalana de Recerca i Estudis Avançats