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'Genomic Anarchy'? We're In!

In his response to a recent Forbes article — which makes projections about the future of sequencing and profiles Ion Torrent's Jonathan Rothberg — Mike the Mad Biologist stresses that a "sequencing revolution" and a "genomics revolution" are not one and the same. Sequencing, he says, "is the easy part." Even assembly is no longer the strenuous task it once was. Annotation and analysis, however, are "not trivial in terms of computation." Mike says that although "high-throughput sequencing is an essential component," it cannot fuel the so-called genomics revolution alone. Looking forward, Mike expects standardization to be an obstacle for annotation. In fact, he predicts that without standardization of both raw genomic data and its associated metadata, "we won't have a genomic revolution, but genomic anarchy."

The Scan

Drug Response Variants May Be Distinct in Somatic, Germline Samples

Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA sequences may miss drug response clues found in the germline.

Breast Cancer Risk Gene Candidates Found by Multi-Ancestry Low-Frequency Variant Analysis

Researchers narrowed in on new and known risk gene candidates with variant profiles for almost 83,500 individuals with breast cancer and 59,199 unaffected controls in Genome Medicine.

Health-Related Quality of Life Gets Boost After Microbiome-Based Treatment for Recurrent C. Diff

A secondary analysis of Phase 3 clinical trial data in JAMA Network Open suggests an investigational oral microbiome-based drug may lead to enhanced quality of life measures.

Study Follows Consequences of Early Confirmatory Trials for Accelerated Approval Indications

Time to traditional approval or withdrawal was shorter when confirmatory trials started prior to accelerated approval, though overall regulatory outcomes remained similar, a JAMA study finds.