Close Menu

structural variation analysis

The Broad Institute is running Chromium in its lab, while other early-access users are collaborating with 10X Genomics on single-cell RNA-seq and exome studies.

Spiral has developed graph-based query technology for compressing and querying large genomic cohorts quickly that is currently being piloted at Baylor College of Medicine

The researchers detected a number of known structural variants from cancer cell lines in a background of wild-type sequence, using mixtures of PCR amplicons.

The 1000 Genomes Project Consortium has shared their results with the scientific community in hopes of gaining insight into disease genomics.

By combining optical mapping with DNA sequencing, University of Wisconsin-Madison researchers examined  structural variation that occurs in multiple myeloma tumors.

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.

Pages

According to Gizmodo, researchers have developed a list of a million nucleic acid-like polymers that could store genetic information.

An opinion piece in the Washington Post argues that golden rice could save the sight and lives of many children.

US National Institutes of Health has issued a new draft data-sharing policy, ScienceInsider reports.

In Cell this week: analysis of immune microenvironment in hepatocellular carcinoma, proteogenomic analysis of clear cell renal cell carcinoma, and more.