Tandem repeats are a highly polymorphic class of genomic variation that play causal roles in rare diseases but are notoriously difficult to sequence using short-read techniques. Most previous studies ...

TG2 functions as an eraser and exchanger of H3 monoaminylations, including histaminylation of Gln5 of histone H3.

Canavan disease (CD) is a neurodegenerative disorder caused by biallelic disease-causing variants in the ASPA gene. Here, we utilized long-read sequencing (LRS) to investigate eight individuals clinic...

Complete blood count indices are tightly regulated around setpoints for decades in healthy adults, and represent a deep phenotype providing opportunities for investigating differential disease risks, ...

Complete blood count indices are tightly regulated around setpoints for decades in healthy adults, and represent a deep phenotype providing opportunities for investigating differential disease risks, ...

Sasha Gusev is a statistical geneticist and an Associate Professor of Medicine at Harvard Medical School and the Dana-Farber Cancer Institute.

Genetic risk scores derived from GWAS of psychotic disorders are greater in creative professionals unaffected by psychosis. This association cannot be explained by shared environment or education. Thu...

Image Challenge from the New England Journal of Medicine — December 5, 2024

Background: Atherosclerosis, a chronic inflammatory vascular disease driven by the accumulation of LDL-derived cholesterol on arterial walls, is the leading cause of mortality worldwide but is rare in...

Genetic investigation of a cardiac arrhythmia reveals a new noncoding Mendelian disease mechanism

The "other" in science never is the caricature/abstraction you distill from the literature.

Nature Communications - Somatic variants in certain genes can cause lesional focal epilepsy. Here the authors perform the largest somatic variant detection study in epilepsy to date, finding...

Scientific Reports - Analysis of the spatio-temporal evolutionary characteristics of myopia among students aged 7–18 years in China: based on panel data analysis

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Sexual dimorphism in genetic vulnerability to schizophrenia, systemic lupus erythematosus and Sjögren’s syndrome is linked to differential protein abundance from alleles of complement component 4.

Nature Medicine - In a cohort of 50,556 South Asian individuals, partitioned polygenic scores helped identify genetic susceptibility to insulin deficiency and unfavorable fat distribution as key...

Regions in the human genome that interact with rs671, a missense variant in ALDH2, and influence alcohol behavior and cancer risk in East Asians.