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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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Massachusetts
United-states
Siwei-chen
Konrad-karczewski
Broad-institute
Department-of-medicine
Member-of-the-broad-institute
Massachusetts-general-hospital
Assistant-professor
Translational-genetics-unit
Associate-member
Genome-aggregation-database

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.

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California
Maryland
San-diego

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 .

Katherine-chao
Konrad-karczewski
Matthew-solomonson
Benjamin-neale
Broad-institute
Pfizer
National-institutes-of-health
United-kingdom-biobank
Cell-genomics
Population-genetics
United-kingdom
National-institutes

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.

Konrad-karczewski
Broad-institute
Harvard-university
United-kingdom-biobank
Cell-genomics
White-european

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