Tag: Genetics

Diagnosis made in about 41 percent of probands with severe disorder; 76 percent had pathogenic de novo variant

High satisfaction reported for genetic testing model including education, follow-up with genetic counselor

Additive risk seen, with more than twofold higher risk for combination of poor sleep and high genetic susceptibility

Interaction identified between H. pylori infection and pathogenic variants in homologous-recombination genes

Circadian pattern of attacks identified, and circadian associations seen at systems and cellular levels

Nineteen independent SNPs identified that were genome-wide significant for general addiction risk factor

Seventeen variants identified as potentially oncogenic in 17.7 percent of South African male patients

Patients with sustained minimal residual disease negativity had longer time to next treatment, regardless of baseline risk characteristics

Model, which considers 10 genes from UroAmp uCGP test, had high sensitivity and specificity in two validation cohorts

Persistence of FLT3-ITD and/or NPM1 in blood associated with relapse and worse survival among acute myeloid leukemia patients