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structural variation analysis

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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Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.

The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.

Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.

In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.