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

Prediction of Transcriptional Regulators Involved in Alzheimer’s Disease

The role of transcription factors in AD was studied on a hippocampal data set using BIOBASE databases and analysis tools. Predicted binding sites for CEBPB, SP1 and STAT family members were highly enriched in this data set suggesting their involvement in AD progression.  For some STAT factors a role in AD is already known. Based on » Read More

Is synonymous always synonymous?

Webster dictionary provides us with very simple definition of the word ‘synonymous’: alike in meaning or significance. Is it actually so when we apply this term to genomics? Recently the paradigm of irrelevance of synonymous changes to the observed phenotypes started to change (Sauna and Kimchi-Sarfaty 2011) and practice of just filtering such variants out » Read More

Steps Toward Genomically Sensible Healthcare

Over the summer, one of the industry’s top genomicists, Nathan Pearson, wrote a nice piece about some changes we need to make when it comes to properly interpreting clinical genomes.  Click here to access the article.  The main points focused around picking more appropriate reference genomes rather than one source (hg19) to do alignment, variant calling, » Read More

Mr. Cancer? Please sign right here! A review of the recent article “Signatures of mutational processes in human cancer”

These days, the genomic analysis of cancer is mostly focused on chasing after driver mutations in hopes of identifying novel targets for therapy. But can we use this approach to discover the actual cause of these mutations? Most would guess “probably not” (besides obvious defects in DNA repair machinery as in the case of BRCA1). » Read More