HGMD: A view into comprehensive coverage

HGMD® is widely accepted as the gold standard for information about published inherited disease mutations, but what makes it such a great resource? In short, it’s HGMD’s comprehensive literature coverage. But what does comprehensive mean, and is it really a big deal? Comprehensive means identifying every published article that describes a germline mutation and assessing » Read More

Publication Roundup: HGMD

Publication Roundup: HGMD – QIAGEN Bioinformatics HGMD®, the Human Gene Mutation Database is used by scientists around the world to find information on reported genetic mutations. The papers below use the database to advance our understanding of disease, DNA dynamics, and more. Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes First author: » Read More

Looking Ahead to AMP 2015

Austin, Here We Come!  We’re getting AMPed up for the upcoming Association for Molecular Pathology 2015 annual meeting! Held at the Austin Convention Center from November 5-7, AMP offers molecular pathologists the chance to catch up on the latest industry and research developments. This year, AMP’s theme is “Realizing the Dream of Precision Medicine,” and » Read More

Highlights from ASHG 2015

Highlights from ASHG 2015

ASHG 2015 was everything we hoped it would be: interesting and inspiring scientific presentations and a place to reconnect with friends and customers. When we weren’t manning a busy booth, our team had a wonderful time soaking in the latest and greatest in human genetics. Here is a recap of our scientific line up at the show: Tuesday » Read More

Looking Ahead to NGS Analysis, Interpretation, Clinical Genomics, and More at 65th ASHG

For more than six decades, the American Society of Human Genetics Annual Meeting has offered the latest news and views about all areas of human genetics. This year, in its 65th iteration, ASHG promises to uphold that tradition: it will take place from October 6-10 at the Baltimore Convention Center, where more than 6,500 attendees » Read More

In Dublin, ISMB Celebrates Bioinformaticians

When it comes to bioinformatics — the kind of equation-rich, in-the-weeds technical detail that makes many a molecular biologist want to run the other way — there’s no event quite as geek-chic as ISMB. (It also has a unique family atmosphere.) This year, the 23rd annual International Conference on Intelligent Systems for Molecular Biology was » Read More

QIAGEN Bioinformatics powered by BIOBASE, Ingenuity and CLC bio

Now that we are all part of the QIAGEN family, we’re working together to offer a full range of bioinformatics software tools for classic pathway and promoter analysis as well as next generation sequencing (NGS) data analysis and interpretation. Our solutions are designed to be universal, so you can mix and match the technologies best » Read More

Summer Release 2014.2

  What’s New in the Summer Release 2014.2 HGMD® In addition to providing more than 4,500 new mutations, the 2014.2 release introduces the following new feature: Batch search by file upload – Batch search now supports uploading of files in plain text format containing one search term/identifier per line.  Tab delimited text should be used » Read More

HGMD Professional Training

February 2014

Competing endogenous RNAs – a new twist in the non-coding RNA story

A mere 20 years ago our awareness of non-coding RNAs was limited to transfer RNAs, ribosomal RNAs, and the like. That all changed with the cloning of the C. elegans LIN-4 RNA by Victor Ambros’s group in 1993, the first identified miRNA. Since that time more than 2,500 human miRNAs have been identified, many with » Read More