Genetics of diabetes mellitus and diabetes complications
Diabetes is one of the fastest growing diseases worldwide, projected to affect 693 million
adults by 2045. Devastating macrovascular complications (cardiovascular disease) and …
adults by 2045. Devastating macrovascular complications (cardiovascular disease) and …
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 …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
Polygenic architecture of rare coding variation across 394,783 exomes
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …
Genome-wide association studies have identified thousands of common-variant …
[HTML][HTML] Regulatory genomic circuitry of human disease loci by integrative epigenomics
Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …
Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions
Major depression is a debilitating psychiatric illness that is typically associated with low
mood and anhedonia. Depression has a heritable component that has remained difficult to …
mood and anhedonia. Depression has a heritable component that has remained difficult to …
Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
[HTML][HTML] Index and biological spectrum of human DNase I hypersensitive sites
W Meuleman, A Muratov, E Rynes, J Halow, K Lee… - Nature, 2020 - nature.com
DNase I hypersensitive sites (DHSs) are generic markers of regulatory DNA,,,–and contain
genetic variations associated with diseases and phenotypic traits,–. We created high …
genetic variations associated with diseases and phenotypic traits,–. We created high …
[HTML][HTML] Genetics of attention deficit hyperactivity disorder
SV Faraone, H Larsson - Molecular psychiatry, 2019 - nature.com
Decades of research show that genes play an vital role in the etiology of attention deficit
hyperactivity disorder (ADHD) and its comorbidity with other disorders. Family, twin, and …
hyperactivity disorder (ADHD) and its comorbidity with other disorders. Family, twin, and …