From target discovery to clinical drug development with human genetics
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …
decades were anticipated to result in many innovative therapies. Here we investigate the …
[HTML][HTML] Host genetics and infectious disease: new tools, insights and translational opportunities
Understanding how human genetics influence infectious disease susceptibility offers the
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …
opportunity for new insights into pathogenesis, potential drug targets, risk stratification …
[HTML][HTML] A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease
Identification of individuals at highest risk of coronary artery disease (CAD)—ideally before
onset—remains an important public health need. Prior studies have developed genome …
onset—remains an important public health need. Prior studies have developed genome …
[HTML][HTML] Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
Few studies have explored the impact of rare variants (minor allele frequency< 1%) on
highly heritable plasma metabolites identified in metabolomic screens. The Finnish …
highly heritable plasma metabolites identified in metabolomic screens. The Finnish …
[HTML][HTML] The GenomeAsia 100K Project enables genetic discoveries across Asia
Nature, 2019 - nature.com
The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …
[HTML][HTML] Genetic associations of protein-coding variants in human disease
Genome-wide association studies (GWAS) have identified thousands of genetic variants
linked to the risk of human disease. However, GWAS have so far remained largely …
linked to the risk of human disease. However, GWAS have so far remained largely …
[HTML][HTML] GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Nature genetics, 2023 - nature.com
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …
[HTML][HTML] Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …
advance our understanding of the biology of human diseases. Here, we present an in-depth …
[HTML][HTML] Post-translational control of beige fat biogenesis by PRDM16 stabilization
Q Wang, H Li, K Tajima, ARP Verkerke, ZH Taxin… - Nature, 2022 - nature.com
Compelling evidence shows that brown and beige adipose tissue are protective against
metabolic diseases,. PR domain-containing 16 (PRDM16) is a dominant activator of the …
metabolic diseases,. PR domain-containing 16 (PRDM16) is a dominant activator of the …
Genetics of substance use disorders in the era of big data
J Gelernter, R Polimanti - Nature Reviews Genetics, 2021 - nature.com
Substance use disorders (SUDs) are conditions in which the use of legal or illegal
substances, such as nicotine, alcohol or opioids, results in clinical and functional …
substances, such as nicotine, alcohol or opioids, results in clinical and functional …