Tag: Genetics
Genetic Variant Identified for Adult-Onset Hearing Loss
12 nucleotide in-frame deletion in RIPOR2 identified as highly penetrant cause of hearing loss
Genetic Tests May Differ in Their Interpretation of Certain Variants
11 percent of interpretations were different for TP53 gene; difference can impact management
Genomewide Level Associations Identified for Severe COVID-19
Association signal spanning several genes ID'd at 3p21.31; signal at 9q34.2 coincides with ABO locus
Subtypes, Genetic Links Identified for Polycystic Ovary Syndrome
Alleles in four loci linked to reproductive subtype, in one locus linked to metabolic subtype of PCOS
Adult T2DM Susceptibility May Be Identifiable in Children
Subtle differences in metabolic features of young people seen from 8 to 25 years of age
Aspirin Tied to Lasting Reduction in CRC Risk in Lynch Syndrome
Reduced risk for colorectal cancer seen in intention-to-treat and per-protocol analyses
ASCO: At-Home Ovarian, Breast Cancer Genetic Testing Feasible
Testing without the traditional office visits and counseling poses no additional stress to women
Platinum Therapy May Up Survival in Pancreatic Cancer With DNA Repair Defects
PFS longer in pancreatic ductal adenocarcinoma with versus without homologous recombination deficiency
Clinical Genetic Testing for Autism Remains Very Low
Based on self-reported data, gap remains between guideline recommendations and clinical practice
Risk for Autism Spectrum Disorder Up With Affected Aunt, Uncle
Rates of ASD higher for offspring of mothers or fathers with a sibling diagnosed with ASD
