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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 …
A global overview of pleiotropy and genetic architecture in complex traits
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 …
Map** genomic loci prioritises genes and implicates synaptic biology in schizophrenia
Schizophrenia Working Group of the Psychiatric … - MedRxiv, 2020 - medrxiv.org
Schizophrenia is a psychiatric disorder whose pathophysiology is largely unknown. It has a
heritability of 60-80%, much of which is attributable to common risk alleles, suggesting …
heritability of 60-80%, much of which is attributable to common risk alleles, suggesting …
From genome-wide associations to candidate causal variants by statistical fine-map**
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …
understanding the functional genetic variants that influence traits is often a complex process …
Genetic map** across autoimmune diseases reveals shared associations and mechanisms
MR Lincoln, N Connally, PP Axisa, C Gasperi… - Nature …, 2024 - nature.com
Autoimmune and inflammatory diseases are polygenic disorders of the immune system.
Many genomic loci harbor risk alleles for several diseases, but the limited resolution of …
Many genomic loci harbor risk alleles for several diseases, but the limited resolution of …
Fine-map** inflammatory bowel disease loci to single-variant resolution
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect
millions of people worldwide. Genome-wide association studies have identified 200 …
millions of people worldwide. Genome-wide association studies have identified 200 …
Interpreting non-coding disease-associated human variants using single-cell epigenomics
Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …
variants in the human genome to common traits and diseases. However, translating this …
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive
pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of …
pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of …
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …
population structure. Here, we present a statistical framework and software package, Tractor …
Dissecting the genetics of complex traits using summary association statistics
B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …
successfully identify tens of thousands of genetic variants associated with complex traits and …