Katherine M. Munson

Career Trajectory

Research Cluster Map

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

• Complete chromosome 21 centromere sequencing of families with Down syndrome

  The American Journal of Human Genetics · 2026-06-01

• Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

  Nature Communications · 2026-04-18

• Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-04-15

• A segmental duplication-mediated deletion leads to neocentromere formation in orangutans

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-04-11

• A family portrait of the genomic factors shaping tandem repeat mutagenesis

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-03-09 · 1 citations

• Haplotype-Resolved Genomics Reveals Conserved Chromatin Architecture and Epigenetic Constraints of Human Neocentromeres

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-25 · 2 citations

• Human acrocentric chromosome short arm <i>de novo</i> mutation and recombination

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-12-17 · 2 citations

• Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsPreprint

  medRxiv · 2025-11-13 · 3 citations

• Structural and transduction patterns of human-specific polymorphic SVA insertions

  Mobile DNA · 2025-11-06 · 1 citations

• Epigenetic and evolutionary features of ape subterminal heterochromatin

  Genome Research · 2025-10-22 · 1 citations

• A telomere-to-telomere map of somatic mutation burden and functional impact in cancerPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-13 · 6 citations

• Author Correction: Complex genetic variation in nearly complete human genomes

  Nature · 2025-08-26 · 2 citations

• Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

  Cell Genomics · 2025-08-22 · 7 citations

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

  Nature Methods · 2025-08-01 · 13 citations

• Complex genetic variation in nearly complete human genomes

  Nature · 2025-07-23 · 80 citations

• Pangenome discovery of missing autism variantsPreprint

  medRxiv · 2025-07-22 · 3 citations

• Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNAPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-07-19 · 4 citations

• Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversionPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-07-05 · 2 citations

• A global map for introgressed structural variation and selection in humansPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-06-24 · 5 citations

• Epigenetic and evolutionary features of ape subterminal heterochromatinPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-05-30 · 1 citations