A comprehensive atlas of breast cancer genomes
Now online at Nature is the most comprehensive molecular portrait of human breast tumors published to date. The Cancer Genome Atlas study encompasses more than 500 primary tumors representing the four...
View ArticleFunctional Validation of Genomic Discoveries
Next-gen sequencing technologies have enabled rapid identification of many genes contributing human disease. Rapid, inexpensive exome sequencing quickly gave us access to the low-hanging fruit: rare...
View ArticleLow-hanging Fruit for Human WGS
This week at the Advances in Genome Biology & Technology meeting in Florida, we’ll undoubtedly hear more about Illumina’s new NGS platforms, particularly the HiSeqX Ten. Illumina claims that this...
View ArticleTen Years and 50 Publications in Big Science
This week at the American Journal of Human Genetics you’ll find a new method for exome-based mapping and rare variant prioritization in Mendelian disorders. The freely-available software package,...
View ArticleThe Future of Cancer Genomics
As you have probably noticed, there’s been a major shift in the focus of next-gen sequencing over the past couple of years. First it was all about new genomes, new techniques, and discovery. Now it’s...
View ArticleA New Name and Era for The Genome Institute
The Genome Institute at WashU has gone by a few different names over the years… previously we were “The Genome Center” and before that, during the Human Genome Project, we were “The Genome Sequencing...
View ArticleMary-Claire King on Inherited Breast/Ovarian Cancer
It is a rare but delightful opportunity to learn about something from an acknowledged world expert. Such was the case last month when I heard Mary-Claire King give the Stanley J. Korsmeyer Memorial...
View ArticleVirtual Normals for Somatic Mutation Detection
In cancer genomics, we typically identify somatic alterations by sequencing DNA from both a tumor and a matched normal “control” sample from the same patient. The Cancer Genome Atlas and other...
View ArticleA New Era for MassGenomics
When I started MassGenomics in 2008, next-generation sequencing was in its infancy. We’d sequenced AML1 — the first cancer genome — with two nascent platforms: Illumina/Solexa (32-bp reads) and 454 FLX...
View ArticleMassGenomics is Closed, but KidsGenomics is Open
Thank you to everyone who sent kind messages after I announced the end of MassGenomics earlier this month. Please rest assured that this website and all of its articles will remain online for the...
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