Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …
The oxytocin receptor: from intracellular signaling to behavior
B Jurek, ID Neumann - Physiological reviews, 2018 - journals.physiology.org
The many facets of the oxytocin (OXT) system of the brain and periphery elicited nearly
25,000 publications since 1930 (see, as listed in PubMed), which revealed central roles for …
25,000 publications since 1930 (see, as listed in PubMed), which revealed central roles for …
The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes
INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …
A complete reference genome improves analysis of human genetic variation
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …
Complementary Alu sequences mediate enhancer–promoter selectivity
L Liang, C Cao, L Ji, Z Cai, D Wang, R Ye, J Chen… - Nature, 2023 - nature.com
Enhancers determine spatiotemporal gene expression programs by engaging with long-
range promoters,,–. However, it remains unknown how enhancers find their cognate …
range promoters,,–. However, it remains unknown how enhancers find their cognate …
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
[HTML][HTML] The UK Biobank resource with deep phenotyping and genomic data
C Bycroft, C Freeman, D Petkova, G Band, LT Elliott… - Nature, 2018 - nature.com
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data
collected on approximately 500,000 individuals from across the United Kingdom, aged …
collected on approximately 500,000 individuals from across the United Kingdom, aged …
[HTML][HTML] A one-penny imputed genome from next-generation reference panels
Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …
greatly increases the number of markers that can be tested for association with a trait. In …
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …
European-descent individuals (9% cases), after imputation to high-density reference panels …