Fritz J. Sedlazeck

Career Trajectory

Research Cluster Map

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

• Global impact of germline structural variation on the cancer proteome

  Nature Communications · 2026-04-14

• Population-scale interpretation of RNA isoform diversity enabled by Isopedia

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-03-25

• VACmap: an accurate long-read aligner for unraveling complex genomic rearrangements

  Nature Communications · 2026-01-05 · 1 citations

• Clair3-RNA: a deep learning-based small variant caller for long-read RNA sequencing data

  Nature Communications · 2025-12-22 · 4 citations

• Supplementary Figures S1-S6 and Tables S1-S5 from Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration

  2025-12-11

• Supplementary Video: HPV and Heterocateny from Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration

  2025-12-11

• Gene‐based association study of rare structural variants in Alzheimer's Disease

  Alzheimer s & Dementia · 2025-12-01

• Benchmark for simple and complex genome inversionsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-01

• Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

  Communications Biology · 2025-11-20 · 4 citations

• GREGoR: accelerating genomics for rare diseasesPreprint

  Nature · 2025-11-12 · 14 citations

• Sixth Annual BCM Hackathon on Structural Variation and Pangenomics

  F1000Research · 2025-11-07 · 1 citations

• LorBin: efficient binning of long-read metagenomes by multiscale adaptive clustering and evaluation

  Nature Communications · 2025-10-24 · 2 citations

• Enriching for Answers in Rare DiseasesPreprint

  medRxiv · 2025-10-24

• TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

  UNC Libraries · 2025-10-21

• Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

  UNC Libraries · 2025-10-17

• Constellation illuminates rare disease geneticsPreprint

  medRxiv · 2025-10-17

• 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

• Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractionsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-09-20 · 5 citations

• Germline structural variations involving the pediatric brain tumor transcriptome include disease-relevant and ancestry-related genes

  Acta Neuropathologica Communications · 2025-08-20 · 1 citations