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American Journal of Human Genetics|January 11, 2016
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNATychele N Turner, Fereydoun Hormozdiari, Michael H Duyzend, et al.American Journal of Human Genetics|December 4, 2018
Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine NeuronsSarah A McClymont, Paul W Hook, Alexandra I Soto, et al.Genes and Immunity|October 29, 2020
Multi-ancestry fine mapping of interferon lambda and the outcome of acute hepatitis C virus infectionCandelaria Vergara, Priya Duggal, Chloe L Thio, et al.Biorxiv : the Preprint Server for Biology|January 7, 2025
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylationKimberley J Billingsley, Melissa Meredith, Kensuke Daida, et al.Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the All of Us Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.Nature|August 23, 2023
The complete sequence of a human Y chromosomeArang Rhie, Sergey Nurk, Monika Cechova, et al.Nature|July 15, 2020
Telomere-to-telomere assembly of a complete human X chromosomeKaren H Miga, Sergey Koren, Arang Rhie, et al.Cell|August 6, 2026
A complete diploid human genome benchmark for personalized genomicsNancy F Hansen, Nathan Dwarshuis, Hyun Joo Ji, et al.Science (New York, N.Y.)|March 31, 2022
Complete genomic and epigenetic maps of human centromeresNicolas Altemose, Glennis A Logsdon, Andrey V Bzikadze, et al.Biorxiv : the Preprint Server for Biology|September 26, 2025
A complete diploid human genome benchmark for personalized genomicsNancy F Hansen, Nathan Dwarshuis, Hyun Joo Ji, et al.Pageof 14