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mutation detection

Both a genome-wide association study and a rare variant burden analysis homed in on a role for KIF5A mutations in amyotrophic lateral sclerosis.

In cases lacking explanatory protein-coding changes, researchers saw an uptick in de novo mutations in conserved, non-coding regulatory elements.

Exome sequences for individuals with or without sound-color synesthesia in three multi-generational families led to rare variants in axonogenesis genes.

PGDx has the exclusive rights to develop both tissue- and blood-based diagnostics using MSK’s TMB-related intellectual property.

Through a genome-wide association study, meta-analysis, and systems analysis, researchers saw enhanced common variant distribution in mutation-intolerant genes.

Investigators identified mutation, expression, and methylation differences in colorectal polyps from individuals with or without colorectal cancer.

Using exome sequence and questionnaire data, researchers saw links between motor skills and likely gene disruptive or missense de novo mutations.

Using sequencing from 262 drug-resistant Plasmodium falciparum representatives, researchers characterized the malaria parasite resistome.

A proportion of pediatric ALL patients appear to have germline TP53 mutations associated with later diagnoses, poorer outcomes, and increased secondary cancer risk.

Teams studying kidney and skin cancers independently implicated SWI/SNF chromatin remodeling mutations in checkpoint blockade immunotherapy response.

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The American Prospect writes that the pilot program to test the DNA of migrants could lead to more family separations.

An international commission is to develop a report on how researchers, clinicians, and regulators should evaluate the clinical applications of human germline genome editing.

The US Department of Agriculture presents a new blueprint for animal genomic research.

In Genome Research this week: repetitive element deletion linked to altered methylation and more in form of muscular dystrophy; human contamination in draft bacterial and archaeal genomes; and more.