A new analysis suggests that some mutations that seem to occur in tumors might actually stem from infiltrating blood cells affected by myeloproliferative neoplasms.
DNA sequence data from hundreds of individuals suggest that age, smoking, and alcohol use coincide with the expansion of clones containing NOTCH1 and PPM1D mutations.
A new analysis found kidney disease-related pathogenic or likely pathogenic variants in exomes for roughly 9 percent of individuals with chronic kidney disease.
Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.
Researchers identified germline and somatic changes that marked low-grade and high-grade cases in adults and children with a condition called neurofibromatosis 1.
With genealogical data for 3.4 million individuals from Quebec, investigators traced a rare heart and digestive disease back to two 17th century founder families.
Using DNA sequence, gene expression, methylation, and drug response data, researchers saw alterations linked to ovarian cancer subtypes and drug responses.
