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Large-scale DNA sequence resource reveals new regions of the human genome under natural selection

Large-scale DNA sequence resource reveals new regions of the human genome under natural selection
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Community Newsletter: PAX5 mutations, rare-disease gene bank, dopamine primer | Spectrum

Takeaways from two team-ups titillated Twitter this week one on the effects of mutations in the PAX5 gene and one linking rare genetic mutations to a large number of diseases and traits. Plus a primer on dopamine with facts about dopamine fasting.

New online resource helps connect rare genetic variants to human health and disease

In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene one from each parent were up to 88 percent less likely to have coronary heart disease than people with functioning PCSK9 .

Genebass Browser Launched to Help Improve Genetic Disease Identification

New browser tool Genebass allows researchers and clinicians to search for rare genetic variants linked to diseases.

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