HGMD Training
Getting started with HGMD Professional This session is recommended for all new and current HGMD users. This live session will provide an overview of HGMD Professional. We will demonstrate new...
View ArticleTRANSFAC’s Matrix Library Contributes to ENCODE Data Analysis
The ENCODE (Encyclopedia of DNA Elements) project has sought to catalog and characterize the function of vast stretches of the human genome that lie outside of the protein coding regions which only...
View ArticleCLC Genomic Workbench Application Notes
CLC Bio offers a plug-in to provide direct access to BIOBASE’s Genome Trax from CLC Genomics Workbench. Recently CLC Bio published two application notes using the CLC Genomics Workbench and the Genome...
View ArticleAttending ASHG 2012? Stob by our booth for a live demonstration of Genome Trax
If you are attending the American Society of Human Genetics (ASHG) this week in San Francisco, please stop by our booth #1319 for a live demonstration of Genome Trax / HGMD. Learn about our latest...
View ArticleGenome Trax: Latest Product Updates
Genome TraxTM is an annotation tool for your NGS pipeline. It enables identification of functionally significant human genome variations by mapping NGS data to known elements such as regulatory sites...
View ArticleRapidly growing technology towards personalized medicine
It was a mystery to many of us why the legendary diagnostician Dr. Gregory House has decided to leave his comfortable office in Princeton-Plainsboro Hospital earlier this year. Now it is clear, that...
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HGMD® Contributes to Nature’s Human Genomes Project
November 1, 2012 — Nature published a paper on an integrated map of genetic variation from 1,092 human genomes. This publication included three HGMD co-authors. The 1000 Genomes Project aims to build a...
View ArticleFuture Medicine and Next Generation Sequencing
Can a simple blood test be used to identify the malignant tumors in our body? According to recent finding by researchers in the labs of Victor Velculescu and Luis Diaz from Johns Hopkins Kimmel Cancer...
View ArticleNovel technologies for reliable whole genome sequencing of single cells open...
Scientific community has just witnessed another technological breakthrough that has great potential to get us closer to the ultimate goal of comprehensive personalized medicine. Two groups (Zong et al,...
View ArticleACMG Recommendations for Reporting of Incidental Findings in Clinical Exome...
Last week, the American College of Medical Genetics and Genomics (ACMG) released their recommendations on the reporting of “incidental findings” when a patient gets their genome or exome sequenced....
View ArticleCancer Metabolism: How Alien It Can Be?
It has been known for a few decades that metabolism of cancer could be very different from that of normal tissues. Recent systemic study by Hu et al (ref) finally allows observation of a complete...
View ArticleGenetic tests and personal relevance!
Sometimes medical tests reveal way more than the patient is ready to know. That’s probably the thought that crossed the mind of 66-years old Chinese man when he learned his diagnosis. He was admitted...
View ArticleMr. Cancer? Please sign right here! A review of the recent article...
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...
View ArticleSteps 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...
View ArticleIs 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...
View ArticlePrediction 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...
View ArticleCompeting 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...
View ArticleHGMD Professional Training
Learn how to: • Quickly access detailed reports for human inherited mutations without tedious and time consuming literature searches • Identify various options for mutations and their possible outcome...
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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...
View ArticleQIAGEN 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...
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