Jana Ebler

Düsseldorf University Hospital — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

24h-index6.1kcitations78works15.72yr avg
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Research Topics

Genomics and Phylogenetic Studies(36), Genomic variations and chromosomal abnormalities(19), Genomics and Rare Diseases(18), Chromosomal and Genetic Variations(15), Gene expression and cancer classification(11)

Publications76 total

Structural and transduction patterns of human-specific polymorphic SVA insertions
Mobile DNA·2025Open Access
Author Correction: Complex genetic variation in nearly complete human genomes
Nature·2025· 1 citedOpen Access
Complex genetic variation in nearly complete human genomes
Nature·2025· 43 citedOpen Access
Structural variation in 1,019 diverse humans based on long-read sequencing
Nature·2025· 29 citedOpen Access
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project
Zenodo (CERN European Organization for Nuclear Research)·2024Open Access
Complex genetic variation in nearly complete human genomes
2024· 26 citedOpen Access
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project
2024· 36 citedOpen Access
SVarp: pangenome-based structural variant discovery
2024· 5 citedOpen Access
SV analysis of the 1019 samples of the 1KG-ONT panel
Zenodo (CERN European Organization for Nuclear Research)·2023Open Access
Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall
Genome Research·2023· 30 citedOpen Access
A draft human pangenome reference
Yearbook of pediatric endocrinology·2023· 24 cited
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
Cell Reports Methods·2023· 6 citedOpen Access
Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia
HemaSphere·2023· 19 citedOpen Access
Pangenome graph construction from genome alignments with Minigraph-Cactus
Nature Biotechnology·2023· 265 citedOpen Access
A draft human pangenome reference
Nature·2023· 1.0k citedOpen Access
Recombination between heterologous human acrocentric chromosomes
Nature·2023· 129 citedOpen Access
Increased mutation and gene conversion within human segmental duplications
Nature·2023· 105 citedOpen Access
Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall
2023· 10 citedOpen Access
Inversion polymorphism in a complete human genome assembly
Genome biology·2023· 32 citedOpen Access
HPRC-CHM13 PanGenie results
Zenodo (CERN European Organization for Nuclear Research)·2023Open Access
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Frequent Co-authors

Tobias Marschall(46), Jan O. Korbel(25), Evan E. Eichler(21), Peter Ebert(20), David Porubský(19), Peter A. Audano(18), Benedict Paten(17), Katherine M. Munson(15), Tobias Rausch(15), Glenn Hickey(14), William T. Harvey(14), Ashley D. Sanders(13), Hufsah Ashraf(13), Mikko Rautiainen(12), Mark Chaisson(12), Marina Haukness(11), Allison Regier(11), Michael C. Zody(11), Heng Li(10), Jean Monlong(10)