Susan Fairley

Biochemistry, Genetics and Molecular Biology · Life Sciences

30h-index13.8kcitations41works0.02yr avg
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Research Topics

Genomics and Phylogenetic Studies(22), Chromosomal and Genetic Variations(10), Genomic variations and chromosomal abnormalities(10), Genomics and Rare Diseases(9), Genetic Associations and Epidemiology(7)

Publications41 total

Structural and transduction patterns of human-specific polymorphic SVA insertions
Mobile DNA·2025Open 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
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Cell·2022· 948 citedOpen Access
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Cell Genomics·2021· 273 citedOpen Access
Variant calling across 505 openly consented samples from four Gambian populations on GRCh38
Wellcome Open Research·2021· 1 citedOpen Access
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
<i>De novo</i> assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation
2020· 5 citedOpen Access
Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project
Wellcome Open Research·2019· 118 citedOpen Access
Human-specific tandem repeat expansion and differential gene expression during primate evolution
Proceedings of the National Academy of Sciences·2019· 153 citedOpen Access
The International Genome Sample Resource (IGSR) collection of open human genomic variation resources
Nucleic Acids Research·2019· 512 citedOpen Access
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Nature Communications·2019· 983 citedOpen Access
Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project
Wellcome Open Research·2019· 7 citedOpen Access
igsr/igsr_analysis: First release of code
Zenodo (CERN European Organization for Nuclear Research)·2019Open Access
Genome Wide Association Mapping of Grain and Straw Biomass Traits in the Rice Bengal and Assam Aus Panel (BAAP) Grown Under Alternate Wetting and Drying and Permanently Flooded Irrigation
Frontiers in Plant Science·2018· 56 citedOpen Access
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Frequent Co-authors

Paul Flicek(29), Ernesto Lowy(13), Laura Clarke(11), Haley Abel(11), David Porubský(11), Jan O. Korbel(11), Allison Regier(11), Katherine M. Munson(10), Ashley D. Sanders(10), Mark Chaisson(10), Evan E. Eichler(10), Thibaut Hourlier(9), Jana Ebler(9), Xuefang Zhao(9), Harrison Brand(9), Tobias Marschall(9), Ira M. Hall(9), Kerstin Howe(8), Stephen M. J. Searle(8), William T. Harvey(8)