Karen H. Miga

Career Trajectory

Research Cluster Map

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

• Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-16 · 3 citations

• Wakhan: reconstruction of chromosome-scale copy number profiles of tumor genomes with long-read sequencing

  medRxiv · 2025-12-15

• A complete diploid human genome benchmark for personalized genomicsPreprint

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

• Abstract 2848: Severus: A tool for detecting and characterizing complex structural variants in cancer using long-read sequencing

  Cancer Research · 2025-04-21

• Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaPreprint

  medRxiv · 2025-02-10 · 2 citations

• Evolution and instability of human centromeres are accelerated by heterochromatin boundary loss and CENP-A overexpressionPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-02-03 · 9 citations

• Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

  The American Journal of Human Genetics · 2025-01-24 · 39 citations

• Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylationPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2024-12-18 · 16 citations

• Gapless assembly of complete human and plant chromosomes using only nanopore sequencing

  Genome Research · 2024-11-01 · 34 citations

• Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionPreprint

  medRxiv · 2024-08-22 · 5 citations