Primary ciliary dyskinesia (PCD) is a disorder characterized by chronic respiratory distress that has a history of going undiagnosed. Combined whole-exome sequencing (WES) and copy-number...


By the time President Obama announced the Precision Medicine Initiative in January 2015, the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort was...


Patients seeking certainty in genetic tests, such as tests for inherited susceptibility to cancer, often receive a perplexing result. Many people learn they carry a...


The most diverse of all human genes encode a set of proteins at the frontline of our immune system. Many different Human Leukocyte Antigen (HLA)...


One of the major risk factors for autoimmune diseases is being born with two copies of the X chromosome. For example, women—who typically carry two...


We're pleased to announce that Kym Boycott (Children’s Hospital of Eastern Ontario) has joined the GENETICS Editorial Board. Following Editor-in-Chief Mark Johnston's call for submissions of human genetics...


In this month’s editorial, the Editors of GENETICS invite submissions of human genetics research articles. To kick off the journal’s call for papers, the October issue...


In 1979, as the US slid into recession, researchers began systematically crossing eight distinct inbred rat strains. Their goal was to establish a genetically diverse...


For genome-wide association studies, data is power. The more data you have, the more statistical power you wield to find genetic associations. But are there...