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This Week in Nature: Dec 31, 2009

In the advance, online edition of Nature Biotechnology this week, researchers from Germany and Singapore examined the how gene expression shifts when the malarial parasite Plasmodium falciparum is exposed to 20 compounds that inhibit an early stage of the parasite's development in blood cells. The team found at least three-fold changes in the expression of roughly 59 percent of P. falciparum coding genes after treatment with one or more of the chemicals. By combining these expression patterns with sequence, domain, two-hybrid and other data, the team came up with an interaction network that they say "may facilitate identification of novel antimalarial drugs and vaccines."

Mark Gerstein and his colleagues used a method called BreakSeq to find previously overlooked structural variants in genomes sequenced using short read methods. To do this, researchers compared short read-sequenced genomes with a breakpoint library they developed by integrating and standardizing data on some 2,000 known structural variants and then characterizing these variants. "As new data become available, we expect our BreakSeq approach will become more sensitive and facilitate rapid [structural variant] genotyping of personal genomes," Gerstein and his co-authors write.

The online edition of Nature Genetics this week has a paper on genetic variants affecting human metabolism. For that study, German, Austrian, and British researchers did a genome-wide association study of 163 metabolic traits in blood samples taken from more than 1,800 individuals. In the process, the team found nine loci associated with metabolic traits and replicated in 422 additional study participants. Of these, eight appear to involve variants in or around genes coding for enzymes or solute carriers involved in metabolic function.

In the print issue of the journal, University of Washington researchers Jay Shendure and Michael Bamshad report on the use of exome sequencing to find the mutations behind a single gene disease called Miller syndrome. By sequencing the exomes of four individuals from three families and comparing them with SNP databases and previously sequenced exomes, the team honed in on the pyrimidine biosynthesis enzyme-coding gene DHODH as the Miller syndrome culprit. Our sister publication GenomeWeb Daily News previously reported on the paper's online publication.

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.