• Oct 2019

    The human pangenome reference consortium looks to improve the human genome reference sequence

    New 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 more

  • Jul 2019

    Genetic variants in glucose transporter regulate blood sugar levels

    In a recent report published in eLIFE, researchers examined genetic variants in the CHC22 protein responsible for regulating blood sugar levels in our bodies.

    read more

  • Apr 2019

    1000 Genomes samples re-sequenced to improve coverage

    An 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 more

  • Dec 2018

    Differences in Enzyme GSTT2 May Affect Risk for Esophageal Adenocarcinoma

    Researchers 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 more

  • Sep 2018

    Exploring Variants in Rheumatoid Arthritis and Type 1 Diabetes

    Researchers use fine-mapping to focus on small sets of causal variants thought to be associated with rheumatoid arthritis and type 1 diabetes.

    read more

  • Aug 2018

    Researchers Suggest Bipolar Disorder and Schizophrenia Are Results of Evolutionary Change

    Study suggests changes in nucleotide arrays may have affected the function of the CACNA1C gene increasing susceptibility to neuropsychiatric disease.

    read more

  • Jun 2018

    Variation in Progesterone Receptor Gene May Reduce Risk for Premature Birth

    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 more

  • May 2018

    Researchers find epigenetic variations may contribute to unexplained neurodevelopmental disorders

    Researchers 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 more

  • May 2018

    The Link Between Migraine Headaches and the Cold Adapting Variant

    Researchers study the TRPM8 gene and discover that a genetic variant associated with migraines was more common in people living in colder climates.

    read more

  • Apr 2018

    Link to Austism Risk Found in Rare Non-Coding Regions of Paternal Genes

    Researchers found rare inherited structural variants in non-coding regions predispose children to Autism Spectrum Disorder (ASD).

    read more