Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

[HTML][HTML] Genetics of rheumatoid arthritis

L Padyukov - Seminars in immunopathology, 2022 - Springer
Rheumatoid arthritis (RA) is an inflammatory autoimmune disease involving symmetric joints
and is generally characterized by persistent pain, tenderness, and destruction of joints. The …

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries

Z Liu, R Liu, H Gao, S Jung, X Gao, R Sun, X Liu… - Nature …, 2023 - nature.com
Inflammatory bowel diseases (IBDs) are chronic disorders of the gastrointestinal tract with
the following two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most …

Open Targets Platform: new developments and updates two years on

D Carvalho-Silva, A Pierleoni, M Pignatelli… - Nucleic acids …, 2019 - academic.oup.com
Abstract The Open Targets Platform integrates evidence from genetics, genomics,
transcriptomics, drugs, animal models and scientific literature to score and rank target …

Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

CC Robertson, JRJ Inshaw, S Onengut-Gumuscu… - Nature …, 2021 - nature.com
We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date
(61,427 participants), yielding 78 genome-wide-significant (P< 5× 10− 8) regions, including …

[HTML][HTML] The MHC locus and genetic susceptibility to autoimmune and infectious diseases

V Matzaraki, V Kumar, C Wijmenga, A Zhernakova - Genome biology, 2017 - Springer
In the past 50 years, variants in the major histocompatibility complex (MHC) locus, also
known as the human leukocyte antigen (HLA), have been reported as major risk factors for …

[HTML][HTML] The UK10K project identifies rare variants in health and disease

Statistics group Ciampi Antonio 8 Greenwood Celia MT … - Nature, 2015 - nature.com
The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …

The druggable genome and support for target identification and validation in drug development

C Finan, A Gaulton, FA Kruger, RT Lumbers… - Science translational …, 2017 - science.org
Target identification (determining the correct drug targets for a disease) and target validation
(demonstrating an effect of target perturbation on disease biomarkers and disease end …

[PDF][PDF] Rare-variant association analysis: study designs and statistical tests

S Lee, GR Abecasis, M Boehnke, X Lin - The American Journal of Human …, 2014 - cell.com
Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …

[HTML][HTML] Transancestral mapping and genetic load in systemic lupus erythematosus

CD Langefeld, HC Ainsworth, DSC Graham… - Nature …, 2017 - nature.com
Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and
ethnic disparities. We report a large transancestral association study of SLE using …