The global nephrology community recognises the need for a cohesive plan to address the
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …

Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …

Alzheimer's disease (AD) is highly heritable and recent studies have identified over 20
disease-associated genomic loci. Yet these only explain a small proportion of the genetic …

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

This international multidisciplinary document intends to provide clinicians with evidence‐
based practical patient‐centered recommendations for evaluating patients and decedents …

A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal
variants. Results from GWAS typically do not directly translate into causal variants because …

Background Exome sequencing is emerging as a first-line diagnostic method in some
clinical disciplines, but its usefulness has yet to be examined for most constitutional …

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …

The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …