Scientists used data from the 1000 Genomes project to study variations of the progesterone receptor gene and discovered a specific variation found in East Asian populations that appears to reduce the risk of premature birth.
read moreResearchers confirm, with RNAseq analysis, regions significantly rich in novel epivariations often impact gene expression, comparable to loss-of-function mutations. These epivariations may contribute to the pathogenesis of some patients with unexplained neurodevelopmental and/or other congenital anomalies.
read moreResearchers study the TRPM8 gene and discover that a genetic variant associated with migraines was more common in people living in colder climates.
read moreResearchers found rare inherited structural variants in non-coding regions predispose children to Autism Spectrum Disorder (ASD).
read moreStudy suggests altered drug responses may be due to genetic variations in individuals according to research involving G-protein coupled receptors (GPCRs).
read moreMost reports of schizophrenia genetic risk have focused on individuals of European ancestry. Leveraging the publicly-available 1000 Genomes Project data, this new study expands upon previous work to include a Chinese cohort in a genome-wide association study that identified 30 new genetic risk loci for schizophrenia.
read moreResearchers conducting genome-wide studies identify a variant that regulates activity of endothelin-1 (EDN1), a common factor in several vascular diseases.
read moreScientists use genomic data to identify structural variations in human red blood cells and discover a link for lower risk of severe malaria.
read moreScientists use genome-wide data to study the connection between age at menarche and cancer risk.
read moreBy sequencing the DNA of a family of 6, two of which affected with Kawasaki Disease, researchers found a relationship between TLR6 variants and KD.
read more