Allison Regier

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index4.6kcitations38works0.02yr avg
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Research Topics

Genomics and Phylogenetic Studies(15), Chromosomal and Genetic Variations(10), Genomic variations and chromosomal abnormalities(8), Genomics and Rare Diseases(8), Genetic Associations and Epidemiology(7)

Publications38 total

Structural and transduction patterns of human-specific polymorphic SVA insertions
Mobile DNA·2025Open Access
Mapping and characterization of structural variation in 17,795 human genomes
UNC Libraries·2024Open Access
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
Cell Reports Methods·2023· 6 citedOpen Access
Pangenome graph construction from genome alignments with Minigraph-Cactus
Nature Biotechnology·2023· 265 citedOpen Access
A draft human pangenome reference
Nature·2023· 1.0k citedOpen Access
Recombination between heterologous human acrocentric chromosomes
Nature·2023· 129 citedOpen Access
Increased mutation and gene conversion within human segmental duplications
Nature·2023· 105 citedOpen Access
Semi-automated assembly of high-quality diploid human reference genomes
Nature·2022· 218 citedOpen Access
Challenges in working with draft genomes
Figshare·2022Open Access
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Cell·2022· 948 citedOpen Access
Automated assembly of high-quality diploid human reference genomes
2022· 22 citedOpen Access
A strategy for building and using a human reference pangenome
F1000Research·2021· 10 citedOpen Access
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants
Genomics Proteomics & Bioinformatics·2021· 9 citedOpen Access
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences
Human Genomics·2021· 21 citedOpen Access
Association of structural variation with cardiometabolic traits in Finns
The American Journal of Human Genetics·2021· 45 citedOpen Access
Association of structural variation with cardiometabolic traits in Finns
2021
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Science·2021· 754 citedOpen Access
High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
2021· 259 citedOpen Access
High Coverage Whole Genome Sequencing of the Expanded 1000 Genomes Project Cohort Including 602 Trios
SSRN Electronic Journal·2021· 15 citedOpen Access
Additional file 2 of Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences
Figshare·2021Open Access
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Frequent Co-authors

Ira M. Hall(22), Haley Abel(20), Jana Ebler(12), Jan O. Korbel(12), Tobias Marschall(12), David E. Larson(12), Peter Ebert(11), Susan Fairley(11), William T. Harvey(10), David Porubský(10), Ashley D. Sanders(10), Paul Flicek(10), Shilpa Garg(9), Michael C. Zody(9), Evan E. Eichler(9), Mark Chaisson(9), Indraniel Das(9), Nathan O. Stitziel(9), Shuangjia Lu(8), Julian Lucas(8)