mutation detection

A Chinese research team examined why cancer cell populations that amass deleterious mutations do not undergo population extinction.

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.

Silicon Valley Startup Jungla has a 10-year vision of its founders to improve large-scale correlation of mutations and 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.

DNA sequence data from 416 neuroblastoma cases led to informative alterations affecting genes from telomere maintenance, RAS, or TP53 pathways.

Using DNA sequence, gene expression, methylation, and drug response data, researchers saw alterations linked to ovarian cancer subtypes and drug responses.

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Germany's Project DEAL has come to an agreement with the publisher Wiley over journal access and open-access publishing, ScienceInsider reports.

A Canadian panel recommends public coverage of the gene therapy Kymriah if its cost comes down, the Globe and Mail reports.

Researchers uncover additional loci associated with lifespan, which the Telegraph says could be folded into a genetic test.

In Nucleic Acids Research this week: new accurate quantification by sequencing approach, CNV breakpoints in Plasmodium falciparum, and more.