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 picture instead of puzzle fragments. This multi institutional group examined thousands of gene expression arrays of different cancers available at → Read More
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. This has been a fairly controversial topic – when a patient comes to a doctor with a disease that requires sequencing, and their sequence analysis comes → Read More
Novel technologies for reliable whole genome sequencing of single cells open new horizons in personalized medicine.
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, Science 21 1622-6 and Lu et al, Science 21 1627-30) independently reported significant improvements to sequencing technology allowing reliable detection of nearly all CNVs and SNVs → Read More
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 Center, it can! Currently,diagnosticians mainly rely on techniques like mammogram to detect cancer. In such cases, on some occasions, the tumor → Read More
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 resource to help to understand the genetic contribution to disease. Download a PDF document to read the full article.
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 all these moral dilemmas he faced had nothing to do with this controversial move. He just brilliantly envisioned that very soon his profession → Read More
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 and disease mutations. Genome Trax new and improved capabilities allow you to: Find genome feature data mapped to human reference genomes hg18/NCBI36 and hg19/GRCh37. Discover → Read More
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 developments in NGS Variant Analysis, as well as meet our colleagues that will be able to address any specific needs → Read More
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 Trax plug-in to annotate variants. Whole Genome Trio Analysis (PDF) – analyzing trio-based next-generation sequencing data Analysis and Comparison of Samples from Patients with → Read More
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 account for a little over 1% of the genome. The end of the second phase of the project, which resulted in functional assignments → Read More