Asher Bryant
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View article: Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing
Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing Open
Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variant (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis t…
View article: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair
Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair Open
The Genome in a Bottle Consortium (GIAB), hosted by the National Institute of Standards and Technology (NIST), is developing new matched tumor-normal samples, the first to be explicitly consented for public dissemination of genomic data an…
View article: DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies Open
Somatic variant detection is an integral part of cancer genomics analysis. While most methods have focused on short-read sequencing, long-read technologies now offer potential advantages in terms of repeat mapping and variant phasing. We p…
View article: Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads Open
Most current studies rely on short-read sequencing to detect somatic structural variation (SV) in cancer genomes. Long-read sequencing offers the advantage of better mappability and long-range phasing, which results in substantial improvem…
View article: Insights into the Mechanisms and Structure of Breakage-Fusion-Bridge Cycles in Cervical Cancer using Long-Read Sequencing
Insights into the Mechanisms and Structure of Breakage-Fusion-Bridge Cycles in Cervical Cancer using Long-Read Sequencing Open
Summary Cervical cancer is caused by human papillomavirus (HPV) infection, has few approved targeted therapeutics, and is the most common cause of cancer death in low-resource countries. We characterized 19 cervical and four head and neck …