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This Week in Nature: Dec 11, 2014

In Nature this week, a team led by scientists from Massachusetts General Hospital and the Broad Institute report on the discovery of multiple rare genetic mutations that increase the risk of early-onset heart attack. Using pooled data analyzing the protein-encoding regions of more than 9,000 genomes, the team found mutations in the low-density lipoprotein (LDL) receptor gene and in the apolipoprotein A-V gene. Carriers of the mutations had elevated levels of plasma LDL cholesterol and plasma triglycerides, respectively, and were more likely to experience heart attacks earlier in their lives than non-carriers.

And in Nature Biotechnology, Genentech researchers publish the results of an RNA sequencing and single-nucleotide polymorphism array analysis of 675 human cancer cell lines, and subsequent analyses of transcriptome features including gene expression, mutations, gene fusions, and expression of non-human sequences. Of the 2,200 gene fusions cataloged, more than 1,400 consist of genes not previously found in fusions, providing leads for further investigation. The team also describes multiple genome and transcriptome features in a pathway-based approach to enhance prediction of response to targeted therapeutics. GenomeWeb has more on this study here.

The Scan

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.

Researchers Reprogram Plant Roots With Synthetic Genetic Circuit Strategy

Root gene expression was altered with the help of genetic circuits built around a series of synthetic transcriptional regulators in the Nicotiana benthamiana plant in a Science paper.

Infectious Disease Tracking Study Compares Genome Sequencing Approaches

Researchers in BMC Genomics see advantages for capture-based Illumina sequencing and amplicon-based sequencing on the Nanopore instrument, depending on the situation or samples available.

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.