Deciphering Developmental Disorders Study Provides Molecular Diagnosis to 41 Percent of Patients
Members of the DDD study team diagnosed more than 5,500 children with rare diseases from the UK and Ireland using exome sequencing and microarrays.
New Lung Cancer Evolution, Treatment Response Patterns Emerge From TRACERx Study
TRACERx researchers reported on non-small cell lung cancer features linked to disease progression, recurrence, treatment response, and more in seven new papers.
Thermo Fisher Scientific Obtains CE-IVD Mark for Targeted NGS Oncology Test, Analysis Software
The Onocomine Dx Express Test can detect certain clinically relevant tumor mutations in solid malignant neoplasms as well as non-small cell lung cancer.
Chronic Lymphocytic Leukemia Genomic Study Reveals New Subtypes, Ties to Outcomes
With genomic, transcriptomic, and epigenomic data, researchers focused in on recurrent mutations, new driver gene candidates, and factors influencing clinical outcomes.
New Mutational Signatures Detected in Cancers Profiled for UK's 100K Genomes Project
Researchers analyzed genome sequences from 18,640 tumors profiled for the 100kGP and other efforts, leading to dozens of substitution signatures and a new signature detection algorithm.