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
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 to KwongWah Hospital at Hong Kong because of progressive abdominal swelling. He was informed by his team of doctors that the → Read More
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