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 …

Runs of homozygosity: windows into population history and trait architecture

FC Ceballos, PK Joshi, DW Clark, M Ramsay… - Nature Reviews …, 2018 - nature.com
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 …

The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
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 …

A complete reference genome improves analysis of human genetic variation

S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate… - Science, 2022 - science.org
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 …

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

D Taliun, DN Harris, MD Kessler, J Carlson… - Nature, 2021 - nature.com
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 …

[HTML][HTML] A one-penny imputed genome from next-generation reference panels

BL Browning, Y Zhou, SR Browning - The American Journal of Human …, 2018 - cell.com
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 …

Fine-map** type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

A Mahajan, D Taliun, M Thurner, NR Robertson… - Nature …, 2018 - nature.com
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 …

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

SL Pulit, C Stoneman, AP Morris… - Human molecular …, 2019 - academic.oup.com
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 …

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

S Shah, A Henry, C Roselli, H Lin… - Nature …, 2020 - nature.com
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 …