Karen H. Miga

University of California, Santa Cruz — United States

Agricultural and Biological Sciences · Life Sciences

28h-index8.9kcitations57works7.32yr avg
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Research Topics

Chromosomal and Genetic Variations(36), Genomics and Phylogenetic Studies(30), Genomic variations and chromosomal abnormalities(16), Genomics and Chromatin Dynamics(10), RNA and protein synthesis mechanisms(7)

Publications57 total

Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitions
2026Open Access
Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance
2025· 1 citedOpen Access
Wakhan: reconstruction of chromosome-scale copy number profiles of tumor genomes with long-read sequencing
2025Open Access
A complete diploid human genome benchmark for personalized genomics
2025· 11 citedOpen Access
Abstract 2848: Severus: A tool for detecting and characterizing complex structural variants in cancer using long-read sequencing
Cancer Research·2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal Hyperplasia
2025· 2 citedOpen Access
Evolution and instability of human centromeres are accelerated by heterochromatin boundary loss and CENP-A overexpression
2025· 7 citedOpen Access
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
The American Journal of Human Genetics·2025· 26 citedOpen Access
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
2024· 11 citedOpen Access
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
Genome Research·2024· 28 citedOpen Access
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
2024· 4 citedOpen Access
From complete genomes to pangenomes
The American Journal of Human Genetics·2024· 4 citedOpen Access
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
2024· 18 citedOpen Access
RT2T: A Global Collaborative Project to Study Chromosomal Evolution in the Suborder Ruminantia
2024· 1 citedOpen Access
RT2T: A Global Collaborative Project to Study Chromosomal Evolution in the Suborder Ruminantia
2024· 2 citedOpen Access
P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia*
Genetics in Medicine Open·2024Open Access
The UCSC Genome Browser database: 2024 update
Nucleic Acids Research·2023· 339 citedOpen Access
Increased mutation and gene conversion within human segmental duplications
Nature·2023· 105 citedOpen Access
Preliminary assemblies of the three-generational pedigree of African-American ancestry
Zenodo (CERN European Organization for Nuclear Research)·2023Open Access
Preliminary assemblies of the three-generational pedigree of African-American ancestry
Zenodo (CERN European Organization for Nuclear Research)·2023Open Access
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Frequent Co-authors

Adam M. Phillippy(26), Sergey Koren(21), Benedict Paten(21), Arang Rhie(20), Mitchell R. Vollger(18), Evan E. Eichler(16), Miten Jain(15), Justin M. Zook(15), Kishwar Shafin(14), Michael C. Schatz(14), Winston Timp(13), Nicolas Altemose(12), Rachel J. O’Neill(12), Savannah J. Hoyt(11), Glennis A. Logsdon(11), Erik Garrison(11), Fritz J. Sedlazeck(11), Marina Haukness(10), Nathan D. Olson(10), Mobin Asri(10)