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Venter's Genome, RT-PCR Cancer Dx Score High on Time Magazine 'Top 10' Lists

NEW YORK (GenomeWeb News) — Craig Venter’s diploid genome sequence was Time magazine’s second-most important “scientific discovery” in 2007, while an RT-PCR-based breast cancer test made by a Johnson & Johnson subsidiary was the second-most important “medical breakthrough” of the year.
Venter’s genome, the first diploid of a known individual, appeared in the September issue of PLoS Biology. In a press briefing announcing the research, which used Sanger sequencing, Venter said it is “probably the first and last” individual genome to be sequenced by the technology because of the “cost and time involved.”
Venter estimated that the project cost at least $70 million. Still, the “high-quality draft” is not yet finished. To close the gaps and improve the assembly of haplotypes, the scientists are now generating additional data using next-generation sequencing technologies.
The complete Top 10 Scientific Discoveries list can be seen here.
The US Food and Drug Administration in July cleared an RT-PCR assay that detects the spread of breast cancer in the lymph nodes. The test, made by Johnson & Johnson subsidiary Veridex, was No. 2 on Time magazine’s Top 10 list of “medical breakthroughs.”
The intra-operative test, called the GeneSearch breast lymph node assay, uses real time reverse transcriptase PCR on tissue extracted from a sentinel lymph node tissue sample to detect genes indicating that breast cancer has metastasized into the node.
Conducted on Cepheid’s SmartCycler system, the test can generate results in 35 to 40 minutes compared with the two or three days for standard tissue pathology, Veridex said.
The complete Top 10 Medical Breakthroughs can be seen here.

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.