[HTML][HTML] From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
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 …
[HTML][HTML] A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
The crucial role of genome-wide genetic variation in conservation
M Kardos, EE Armstrong… - Proceedings of the …, 2021 - National Acad Sciences
The unprecedented rate of extinction calls for efficient use of genetics to help conserve
biodiversity. Several recent genomic and simulation-based studies have argued that the …
biodiversity. Several recent genomic and simulation-based studies have argued that the …
[HTML][HTML] Graph pangenome captures missing heritability and empowers tomato breeding
Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …
analyses of complex biological traits,. The solution to this problem is to identify all causal …
[PDF][PDF] A single-cell atlas of chromatin accessibility in the human genome
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
The pathogenesis of endometriosis: molecular and cell biology insights
The etiopathogenesis of endometriosis is a multifactorial process resulting in a
heterogeneous disease. Considering that endometriosis etiology and pathogenesis are still …
heterogeneous disease. Considering that endometriosis etiology and pathogenesis are still …
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are
leading causes of sudden death and heart failure in young, otherwise healthy, individuals …
leading causes of sudden death and heart failure in young, otherwise healthy, individuals …
Ancestry-inclusive dog genomics challenges popular breed stereotypes
Behavioral genetics in dogs has focused on modern breeds, which are isolated subgroups
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …