Evidence for 28 genetic disorders discovered by combining healthcare and research data

28 December، 2020

Abstract De novo mutations in protein-coding genes are a well-established cause of developmental disorders1. However, genes known to be associated with developmental disorders account for only a minority of the observed excess of such de novo mutations1,2. Here, to identify previously undescribed…

Reprogramming to recover youthful epigenetic information and restore vision

28 December، 2020

Abstract Ageing is a degenerative process that leads to tissue dysfunction and death. A proposed cause of ageing is the accumulation of epigenetic noise that disrupts gene expression patterns, leading to decreases in tissue function and regenerative capacity1,2,3. Changes to DNA methylation…

A molecular cell atlas of the human lung from single-cell RNA sequencing

28 December، 2020

Abstract Although single-cell RNA sequencing studies have begun to provide compendia of cell expression profiles, it has been difficult to systematically identify and localize all molecular cell types in individual organs to create a full molecular cell atlas. Here, using droplet- and plate-based…

Gastroesophageal Reflux Disease: A Review

26 December، 2020

Importance Gastroesophageal reflux disease (GERD) is defined by recurrent and troublesome heartburn and regurgitation or GERD-specific complications and affects approximately 20% of the adult population in high-income countries. Observations GERD can influence patients’ health-related quality of life and is associated with an…