News

  • 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.

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  • 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.

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  • 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.

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  • 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.

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  • 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.

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  • 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.

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  • 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.

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  • 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).

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  • Apr 2018

    Effectiveness of Medicine Determined by Human Mutations

    Study suggests altered drug responses may be due to genetic variations in individuals according to research involving G-protein coupled receptors (GPCRs).

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  • Jan 2018

    Researchers Discover 30 Novel Susceptibility Loci for Schizophrenia

    Most 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. 

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