Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
Advancing the use of genome-wide association studies for drug repurposing
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …
complex diseases, which are broadly expected to lead to the identification of new drug …
Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Cross-trait assortative mating is widespread and inflates genetic correlation estimates
The observation of genetic correlations between disparate human traits has been
interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative …
interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative …
A global overview of pleiotropy and genetic architecture in complex traits
K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
Tutorial: a guide to performing polygenic risk score analyses
SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …
genetic liability to a trait or disease, calculated according to their genotype profile and …
The personal and clinical utility of polygenic risk scores
A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …
promised to rapidly transform personalized medicine with individualized disease risk …
Engineering triangular carbon quantum dots with unprecedented narrow bandwidth emission for multicolored LEDs
F Yuan, T Yuan, L Sui, Z Wang, Z Xi, Y Li, X Li… - Nature …, 2018 - nature.com
Carbon quantum dots (CQDs) have emerged as promising materials for optoelectronic
applications on account of carbon's intrinsic merits of high stability, low cost, and …
applications on account of carbon's intrinsic merits of high stability, low cost, and …
[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …
European descent, but it is essential that diverse populations become better represented …
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data
Analyses of data from genome-wide association studies on unrelated individuals have
shown that, for human traits and diseases, approximately one-third to two-thirds of …
shown that, for human traits and diseases, approximately one-third to two-thirds of …