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Many genes associated with the risk of coronary artery disease act through the liver

A new study reveals that over one third of genetic variants associated with coronary artery disease regulate liver-specific genes involved in cholesterol metabolism. Researchers pinpoint the causal single nucleotide polymorphisms and target genes mediating the risk, expanding our understanding of the disease's mechanisms.

SourceUniversity of Eastern Finland·JournalAmerican Journal of Human Genetics·DateFeb 24, 2021

Genetic analysis of symptoms yields new insights into PTSD

A recent study analyzing over 250,000 genomes identifies genetic similarities between PTSD and other mental health disorders, including anxiety and bipolar disorder. The research also suggests that certain medications used for other conditions may be effective in treating individual symptoms of multiple disorders.

SourceYale University·JournalNature Genetics·DateJan 28, 2021

Specific genes increase the risk of bedwetting

A large-scale study has found specific genetic variants that increase the risk of nocturnal enuresis, commonly known as bedwetting. The study provides new insights into the processes causing this widespread phenomenon and highlights the importance of genetic factors in its development.

SourceAarhus University·JournalThe Lancet Child & Adolescent Health·DateJan 19, 2021

Inferring human genomes at a fraction of the cost promises to boost biomedical research

A new statistical method called GLIMPSE allows for the inference of complete human genomes from small amounts of data, providing a cost-effective alternative to current approaches. This enables researchers to analyze understudied populations and uncover associations in complex traits such as Alzheimer's disease, cancer, and obesity.

SourceSwiss Institute of Bioinformatics·JournalNature Genetics·DateJan 13, 2021

Long-term study finds dozens of new genetic markers associated with lifetime bone growth

A long-term study has discovered dozens of new genetic markers associated with bone mineral accrual, which could help identify causes of osteoporosis earlier in life through genetic testing. The findings suggest that risk of fractures occurring later in life may be identifiable in childhood and could lead to tailored interventions.

SourceChildren's Hospital of Philadelphia·JournalGenome Biology·DateJan 6, 2021

There's a gene for detecting that fishy smell, olfactory GWAS shows

Researchers found sequence variants that influence how people perceive and describe fish, licorice, and cinnamon odors. The study identified three genes, including TAAR5, which affects perception of fish odor containing trimethylamine, as well as common olfactory gene variants influencing licorice and cinnamon sensitivity.

SourceCell Press·JournalCurrent Biology·DateOct 8, 2020

Researchers discover gene that could decrease likelihood of developing alcoholic cirrhosis

A new study published in Hepatology has identified a gene, Fas Associated Factor Family Member 2 (FAF2), that may reduce the risk of developing alcoholic cirrhosis. The researchers found that this gene is involved in lipid droplet organization pathway and is linked to other genes that increase the likelihood of liver disease.

CHOP-pioneered spatial mapping method pinpoints potential new therapeutic targets in lupus

A team of researchers from Children's Hospital of Philadelphia used a new method to pinpoint potential disease-causing changes in the genome and identified two new potential therapeutic targets for lupus. The study focused on follicular helper T cells and created three-dimensional maps that match variants with genes they likely regulate.

SourceChildren's Hospital of Philadelphia·JournalNature Communications·DateJul 8, 2020

Researchers identify distinct subtypes of polycystic ovary syndrome with novel genetic associations

Researchers identified reproductive and metabolic subtypes of PCOS associated with novel gene regions, promising to transform understanding of the disorder. The study used clustering of clinical, metabolic, and hormonal data from women with PCOS, revealing two distinct subtypes with different genetic architectures.

Duality Technologies researchers accelerate privacy-enhanced collaboration on genomic data

Researchers detail accurate privacy-enhanced genome-wide association studies of over 25,000 individuals using homomorphic encryption to yield results 30 times faster than prior secure computation methods. The technology enables collaboration on large-scale genomic and clinical studies while protecting individual participant privacy.

SourceDuality Technologies·JournalProceedings of the National Academy of Sciences·DateMay 14, 2020

Ancient Andes, analyzed

An international team analyzed genome-wide data from 89 ancient individuals in the central Andes, revealing early genetic distinctions between groups, population mixing, and surprising genetic continuity. The study provides a comprehensive portrait of pre-Columbian Andean civilizations.

SourceHarvard Medical School·JournalCell·DateMay 7, 2020