Labroots

Understanding Bioinformatics Workflows for NGS Analysis: Case Study with Whole-exome Sequencing Data

NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...
The American Journal of Managed Care

Whole Exome Sequencing Identifies Distinct Profile of Transformed SCLC

Transformed SCLC from EGFR-mutated LUAD shows a unique mutational profile, complicating treatment approaches and highlighting the need for tailored therapies. Whole exome sequencing revealed ...
ascopubs.org

Constructing genetic-immune prognostic subtypes of primary duodenal adenocarcinoma through whole exome sequencing and AI-assisted immune microenvironment analysis.

Association of neighborhood-level factors with access to genetic testing in patients with resectable pancreatic ductal adenocarcinoma. This is an ASCO Meeting Abstract from the 2025 ASCO Annual ...
GEN

Integrative Exome Sequencing and Machine Learning Identify New Genes Contributing to Systemic Sclerosis Risk

Scientists at the Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein ...