Charles Hadley S. King

The paper introduces Watershed-DL, a framework integrating sequence-to-omics predictions and multi-omics data to prioritize rare variants, finding it increases prioritized variants by 61.4% and identifies candidate disease alleles.

This study evaluates the diagnostic yield of long-read genome sequencing in cases where short-read sequencing failed, finding an incremental yield of 4.7% due to LR-GS's ability to detect structural variants and other complex genomic features.

The paper introduces a data model and dataset for rare disease research, enabling interoperable multi-omic data integration across clinical sites.

The paper develops Paraphase, a HiFi-based method to resolve highly similar paralogous genes, revealing genetic diversity and de novo events in segmental duplications.

The paper introduces a web-based platform for building bioinformatics workflows using APIs, enabling hypothesis generation across multiple data sources.

The paper presents BioCompute Objects (BCOs) as a standardized framework for communicating computational analyses, demonstrating their use in a viral detection pipeline for regulatory environments.

This study identifies differentially expressed glycosyltransferases across 16 cancers using a multifaceted genomics approach and integrates findings with experimental evidence.

The paper describes a crowdsourced challenge on precisionFDA to improve the BioCompute standard by gathering feedback and demonstrating BCO creation tools.