The oxytocin receptor: from intracellular signaling to behavior
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 …
Runs of homozygosity: windows into population history and trait architecture
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
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 …
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 …
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 …
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] 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-map** 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 …
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
More than one in three adults worldwide is either overweight or obese. Epidemiological
studies indicate that the location and distribution of excess fat, rather than general adiposity …
studies indicate that the location and distribution of excess fat, rather than general adiposity …
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion
of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide …
of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide …