The Spring 2020 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world’s largest collection of…

A high-throughput population screening laboratory sees significant scale-up with implementation of QIAGEN Clinical Insight (QCI®) INTRODUCTION Genetic disease is the leading…

Over a quarter million germline mutations catalogued HGMD now contains 256,070 germline mutations As of March 29, 2019, HGMD contains…

An estimated 300 million people worldwide live with some form of rare disease. In the US, a disease is considered…

Bioinformatic Tools for Genome Analysis The dust has settled after a whirlwind annual meeting of the American Society of Human…

Meet us at ACMG 2017 The American College of Medical Genetics and Genomics Annual Meeting (ACMG 2017) takes place on…

Nearly 250 million people around the world are affected by rare diseases, which are typically genetic in nature. Their rarity…

We often think of rare diseases as being rare, affecting only a small number of people. When looked at from…

The European Human Genetics Conference 2016 is taking place in Barcelona, Spain, on May 21-24. We’ll be there and we…

Human Genome Variation Society (HGVS) is hosting a meeting on “Clinical Interpretation of Variants from Next-Generation Sequencing”. The meeting will…

Living with a rare disease is often lonely and isolating for patients and caregivers alike. Through our work with researchers…