• Jul 2020

    GnomAD Consortium Details Range of Human Genetic Variation from Large Dataset

    In a study published in the journal Nature, scientists from the Genome Aggregation Database (gnomAD) Consortium generated a reference map of structural variants from over 14,800 human genome sequences representing diverse global populations.

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  • May 2020

    New SNP Search Tool

    NHGRI Repository catalog users now have a new tool to identify cell lines and DNA needed for their research. SNP Search allows users to search for a specific genetic variant among Coriell-housed samples that were included in the Phase 3 1000 Genomes Project whole genome sequencing dataset (see more details here).

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  • Feb 2020

    Psychiatric Genomics Consortium Study Reveals that Many Psychiatric Disorders Arise from Common Genes

    In a study published in the journal Cell, scientists from the Psychiatric Genomics Consortium analyzed genetic data from over 600,000 people to see if they could identify genetic variants that increase the risk for one or more psychiatric disorders to study how the variants may contribute to a broad spectrum of mental health disorders.

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  • Dec 2019

    Jumping genes can cause rare developmental disorders in children

    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.

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  • 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.

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  • 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.

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  • 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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