In a study published in the journal Nature Communications, scientists studied the genomes of more than 9,700 children with severe undiagnosed developmental disorders to search for genetic changes that may lead to disorders such as autism, epilepsy, intellectual disabilities and heart defects.
read moreNew grants from the National Human Genome Research Institute (NHGRI) will enable scientists to generate and maintain a new and comprehensive human genome reference sequence that represents genetic diversity in the human population.
read moreIn a recent report published in eLIFE, researchers examined genetic variants in the CHC22 protein responsible for regulating blood sugar levels in our bodies.
read moreAn important milestone has been reached for the 1000 Genomes project – some of the samples that were collected have been re-sequenced to improve the quality and sequencing depth of the data.
read moreResearchers conduct a study to examine why Caucasians are developing esophageal adenocarcinoma at a much higher rate than African Americans. The study suggests a duplication within a portion of the genome may be the cause.
read moreResearchers use fine-mapping to focus on small sets of causal variants thought to be associated with rheumatoid arthritis and type 1 diabetes.
read moreStudy suggests changes in nucleotide arrays may have affected the function of the CACNA1C gene increasing susceptibility to neuropsychiatric disease.
read moreScientists 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.
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