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From Delight to Disappointment, All in a Single Week

It must have been an emotional rollercoaster for people involved with the Personal Genome Project this week. Monday saw all the excitement of a press conference and announcement of the data release, but by today at least one blogger says he's disappointed by the output. Daniel MacArthur at Genetic Future writes that "the data released so far makes for pretty desultory reading." He acknowledges that this is a preliminary version only and says he expects quality to improve considerably. But right now, he writes:

Even making some generous assumptions about the quality of the sequence and the size of the targeted regions, the data files currently posted on the PGP website would have a per-base coverage of around 0.5 times - in other words, each base in the target regions has been sequenced less than once, on average. That's far too low to provide useful information about the patterns of variation in these regions.

 

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.