Joyce Lee

BioNano Genomics (United States) — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index10.0kcitations70works10.32yr avg
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Research Topics

Genomics and Phylogenetic Studies(26), Chromosomal and Genetic Variations(15), Genomics and Rare Diseases(12), CRISPR and Genetic Engineering(9), RNA and protein synthesis mechanisms(8)

Publications67 total

Structural and transduction patterns of human-specific polymorphic SVA insertions
Mobile DNA·2025Open Access
Genomic map of the functionally extinct northern white rhinoceros ( <i>Ceratotherium simum cottoni</i> )
Proceedings of the National Academy of Sciences·2025· 2 citedOpen Access
Advances in the Treatment of Nonmetastatic Non–Small Cell Lung Cancer
Journal of the National Comprehensive Cancer Network·2025Open Access
Low-level shRNA Cytotoxicity Can Contribute to MYC-induced Hepatocellular Carcinoma in Adult Mice
Molecular Therapy·2025Open Access
Optical genome mapping enables accurate testing of large repeat expansions
Genome Research·2025· 5 citedOpen Access
Using DNA to Reunify Families Separated by Disasters
NAM Perspectives·2024Open Access
Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities
American Journal of Medical Genetics Part A·2024· 4 citedOpen Access
Optical genome mapping enables accurate repeat expansion testing
2024· 2 citedOpen Access
Detection of Genomic Structural Variations Associated with Drug Sensitivity and Resistance in Acute Leukemia
Cancers·2024· 2 citedOpen Access
26. Identification of novel genomic structural variations in Angiosarcoma by Optical Genome Mapping
Cancer Genetics·2022
Semi-automated assembly of high-quality diploid human reference genomes
Nature·2022· 218 citedOpen Access
A contiguous <i>de novo</i> genome assembly of sugar beet EL10 ( <i>Beta vulgaris</i> L.)
DNA Research·2022· 68 citedOpen Access
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
Human Genetics and Genomics Advances·2022· 29 citedOpen Access
8. Optical genome mapping analysis of FMR1 expansions in fragile X syndrome
Cancer Genetics·2022
ATTCT and ATTCC repeat expansions in the <i>ATXN10</i> gene affect disease penetrance of spinocerebellar ataxia type 10
2022Open Access
A complete reference genome improves analysis of human genetic variation
Science·2022· 407 citedOpen Access
Automated assembly of high-quality diploid human reference genomes
2022· 22 citedOpen Access
eP379: Optical genome mapping for high throughput analysis of repeat expansion disorders
Genetics in Medicine·2022· 1 cited
Curated variation benchmarks for challenging medically relevant autosomal genes
Nature Biotechnology·2022· 239 citedOpen Access
Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions
Neuromethods·2022· 2 cited
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Frequent Co-authors

Alex Hastie(23), Sergey Koren(17), Andy Wing Chun Pang(16), Mark Chaisson(15), Aaron M. Wenger(14), Adam M. Phillippy(14), David Porubský(11), Tobias Marschall(11), Evan E. Eichler(11), Paul Flicek(9), Ashley D. Sanders(9), Peter A. Audano(9), Han Cao(9), Chen-Shan Chin(9), Ernest T. Lam(9), Katherine M. Munson(9), Ryan E. Mills(9), Justin M. Zook(9), Nathan D. Olson(9), Arang Rhie(8)