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Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencingLisa A Lansdon, Byunggil Yoo, Ayse Keskus, et al.NPJ Genomic Medicine|April 9, 2026
Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohortLisa A Lansdon, Byunggil Yoo, Ayse Keskus, et al.Nature Communications|May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohortWarren A Cheung, Adam F Johnson, William J Rowell, et al.Biorxiv : the Preprint Server for Biology|September 4, 2024
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologiesJimin Park, Daniel E Cook, Pi-Chuan Chang, et al.Nature Biotechnology|October 16, 2025
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomaticJimin Park, Daniel E Cook, Pi-Chuan Chang, et al.Nature Biotechnology|April 4, 2025
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencingAyse G Keskus, Asher Bryant, Tanveer Ahmad, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohortTricia N Zion, Courtney D Berrios, Ana S A Cohen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesAna S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.Pageof 3