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structural variation analysis

By combining structural variants with read depth change data, the software is able to find CNAs in whole-genome sequence that other methods miss.

The researchers used multiple sequencing technologies, library preparations, assembly methods, and genome mapping tools toward creating a reference diploid genome. 

10X Genomics' GemCode platform

Several early-access customers presented results from the 10X technology at the meeting.

Members of the Pediatric Cancer Genome Project have developed and validated a new algorithm to track down structural variation in cancer genomes based on soft-clipping data generated when sequence reads are partially aligned to a reference genome.

Using data on 185 human genomes, members of the 1000 Genomes Consortium have identified nearly 30,000 structural variants in the human genome.

The firm is nearing a market launch of the system, called the nanoAnalyzer 1000. The system is being developed for a variety of applications including genome assembly, structural variation analysis, and assessing DNA damage.

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NPR says the explosion and fire earlier this week at a Russian lab that stores dangerous pathogens revives the question of whether such samples should be kept.

According to Wired, Nebula Genomics is providing a way for people to get their genomes sequenced anonymously.

A 26-year-old woman tells Cosmopolitan about learning her APOE status at a young age.

In Science journals this week: a functional genomic screen uncovers drug combination that increases KRAS inhibitor efficacy in aggressive lung cancer, and more.