Michael A. Eberle

Career Trajectory

Research Cluster Map

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

• Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples

  The American Journal of Human Genetics · 2026-04-27

• Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases

  The American Journal of Human Genetics · 2026-04-22 · 2 citations

• Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-04-14

• Abstract 5510: Hunting for microsatellite instability in long-read data with Owl.

  Cancer Research · 2026-04-03

• Hunting for microsatellite instability in long-read data with Owl

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-03-10 · 2 citations

• HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

  The American Journal of Human Genetics · 2025-10-31

• Complex structural variant visualization with SVTopo

  BMC Genomics · 2025-10-09

• Aardvark: Sifting through differences in a mound of variantsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-06 · 1 citations

• The Platinum Pedigree: a long-read benchmark for genetic variants

  Nature Methods · 2025-08-01 · 13 citations

• Human de novo mutation rates from a four-generation pedigree reference

  Nature · 2025-04-23 · 81 citations

• Complex structural variant visualization with SVTopoPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-04-22

• Abstract 6288: Precise characterization of complex repeats in cancer genomes

  Cancer Research · 2025-04-21

• Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling

  Bioinformatics · 2025-03-29 · 25 citations

• Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

  Nature Communications · 2025-03-08 · 11 citations

• HiFi long-read genomes for difficult-to-detect, clinically relevant variants

  The American Journal of Human Genetics · 2025-01-13 · 32 citations

• Population-scale variability at short tandem repeat loci reveals pathogenicity signaturePreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-01-07 · 11 citations

• O26: Resolution of large complex VNTRs with HiFi sequencing: Applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat

  Genetics in Medicine Open · 2025-01-01

• P646: StarPhase: Leveraging long-read sequencing to update pharmacogenomic benchmarks

  Genetics in Medicine Open · 2025-01-01

• P340: Targeted long-read sequencing of native DNA for genetic disease diagnostic and screening research

  Genetics in Medicine Open · 2025-01-01

• StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing DataPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-12-11 · 8 citations