From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
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 …

[HTML][HTML] Host genetics and infectious disease: new tools, insights and translational opportunities

AJ Kwok, A Mentzer, JC Knight - Nature Reviews Genetics, 2021 - nature.com
Understanding how human genetics influence infectious disease susceptibility offers the
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

AP Patel, M Wang, Y Ruan, S Koyama, SL Clarke… - Nature Medicine, 2023 - nature.com
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 …

[HTML][HTML] Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

X Yin, LS Chan, D Bose, AU Jackson… - Nature …, 2022 - nature.com
Few studies have explored the impact of rare variants (minor allele frequency< 1%) on
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 …

[HTML][HTML] Genetic associations of protein-coding variants in human disease

BB Sun, MI Kurki, CN Foley, A Mechakra, CY Chen… - Nature, 2022 - nature.com
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 …

[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 …

[HTML][HTML] Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

AN Barbeira, R Bonazzola, ER Gamazon, Y Liang… - Genome biology, 2021 - Springer
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 …

[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 …

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 …