Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of ...

Recognized in the Healthcare category of the 2025 Top Innovations contest, Haystack MRD® enables minimal residual disease ...

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 ...

Agilent Technologies introduced SureSelect Human All-Exon V5 and V5 + UTRs for next-generation sequencing. The new all-exon solutions incorporate the latest advances from Agilent Genomics, the ...

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 ...

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...

Shendure directs the Allen Discovery Center for Cell Lineage at the Allen Institute and the Brotman Baty Institute for ...

Toward a Computable Phenotype for Determining Eligibility of Lung Cancer Screening Using Electronic Health Records Somatic mutations in HLA genes were detected in the tumor data of five patients, and ...

Roche has put forward a new approach to genetic analysis, which it describes as sequencing-by-expansion—a proprietary method that pulls apart the DNA molecule and amplifies the signal of each ...