[HTML][HTML] Reaching the end-game for GWAS: machine learning approaches for the prioritization of complex disease loci

HL Nicholls, CR John, DS Watson, PB Munroe… - Frontiers in …, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have revealed thousands of genetic loci that
underpin the complex biology of many human traits. However, the strength of GWAS–the …

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 …

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

E Mountjoy, EM Schmidt, M Carmona… - Nature …, 2021 - nature.com
Genome-wide association studies (GWASs) have identified many variants associated with
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …

[图书][B] Genome-wide association studies and genomic prediction

C Gondro, J Van der Werf, B Hayes - 2013 - Springer
Genome-wide association studies (GWAS) have rapidly spread across the globe over the
last few years becoming the de facto approach to identify candidate regions associated with …

Genome-wide association studies: hypothesis-“free” or “engaged”?

GD Kitsios, E Zintzaras - Translational Research, 2009 - Elsevier
The advent of the first wave of genome-wide association studies (GWAS) provided a new
conceptual framework in the search for variants underlying common disorders: a massive …

[PDF][PDF] The post-GWAS era: from association to function

MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

[PDF][PDF] Deciphering the emerging complexities of molecular mechanisms at GWAS loci

ME Cannon, KL Mohlke - The American Journal of Human Genetics, 2018 - cell.com
Genome-wide association studies (GWASs) have identified thousands of loci associated
with hundreds of complex diseases and traits, and progress is being made toward …

Guidelines for genome-wide association studies

GS Barsh, GP Copenhaver, G Gibson… - PLoS genetics, 2012 - journals.plos.org
Genome-wide association studies (GWAS) have revolutionized human genetics. They have
led to the identification of thousands of loci that affect both normal variation and susceptibility …

Using gene expression to investigate the genetic basis of complex disorders

AC Nica, ET Dermitzakis - Human molecular genetics, 2008 - academic.oup.com
The identification of complex disease susceptibility loci through genome-wide association
studies (GWAS) has recently become possible and is now a method of choice for …