QIAGEN Bioinformatics // Saturday, June 1, 2019

Lab performing expanded carrier screening boosts efficiency by 80%

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

QIAGEN Bioinformatics // Wednesday, April 3, 2019

HGMD 2019.1 hits major milestone

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

QIAGEN Bioinformatics // Wednesday, February 28, 2018

Researching Rare Disease

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

QIAGEN Bioinformatics // Tuesday, November 21, 2017

ASHG Round up

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

QIAGEN Bioinformatics // Tuesday, March 7, 2017

Join us at ACMG 2017 in Phoenix

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

QIAGEN Bioinformatics // Friday, January 6, 2017

Rare Genomics Institute: Solving rare disease mysteries

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

QIAGEN Bioinformatics // Monday, May 30, 2016

HGMD informs our understanding of rare inherited diseases

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

QIAGEN Bioinformatics // Thursday, May 19, 2016

Bioinformatics at ESHG

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

QIAGEN Bioinformatics // Thursday, May 12, 2016

Efficient and accurate end-to-end solution for rare disease cases

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

QIAGEN Bioinformatics // Monday, February 29, 2016

Raising the profile of rare disease

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

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