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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 …
From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
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 …
Genome-wide characterization of circulating metabolic biomarkers
Genome-wide association analyses using high-throughput metabolomics platforms have led
to novel insights into the biology of human metabolism,,,,,–. This detailed knowledge of the …
to novel insights into the biology of human metabolism,,,,,–. This detailed knowledge of the …
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 …
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 …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
The crucial role of genome-wide genetic variation in conservation
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 …
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 …