blood testing
Liquid Biopsy Comparison Highlights Cell-Free RNA, Multiomic Approaches for Detecting Gastrointestinal Cancers
Researchers used a range of cell-free DNA or cell-free RNA analysis methods to detect possible blood plasma markers for colorectal or stomach cancer.
Multimodal Cell-Free DNA Test May Help Detect Cancer Early in Li-Fraumeni Syndrome Patients
Researchers analyzed cfDNA from blood focusing on genomic, fragmentomic, and epigenomic features linked to cancer in individuals with germline TP53 mutations.
Monogenic Conditions Detected by Panel Sequencing of General Newborn Population
Researchers demonstrated that targeted gene panel sequencing is an effective first-tier method for newborn screening, providing an avenue to expand the conditions considered.
Somatic Mutations in Noncoding Regions Common in Adult Blood Cells
A whole-genome sequencing analysis of blood samples from 43,693 people found 7,131 non-oncogenic somatic mutations in at least 50 individuals.
Rare Protein-Coding Variants Influencing Blood Metabolites Uncovered in UK Biobank Study
With exome sequences from the UK Biobank, researchers unearthed genetic associations with blood metabolites to inform studies of related disease mechanisms.