10X Genomics Releases Linked-Read Data from NIST Genome Samples
News Aug 05, 2015
10X Genomics has announced immediate availability of Linked-Read data generated by the GemCode™ Platform using several NIST reference samples. NIST is the federal agency developing measurements and standards under the U.S. Department of Commerce. As part of the NIST Genome in a Bottle (GIAB) Consortium, 10X Genomics is adding to the technical infrastructure enabling the translation of whole human genome sequencing to clinical practice.
With help from the GIAB Consortium (www.genomeinabottle.org) NIST is developing well-characterized whole human genomes as reference materials, as well as the methods to use these reference materials to understand performance of sequencing and bioinformatics methods.
To support this effort, four Linked-Read data sets have been submitted to NIST and are also publicly available for download. Visualization of Linked-Read data for two samples, NA12878 and NA24385, are instantly accessible through a web-based instance of 10X Genomics’ haplotype-aware Loupe™ genome browser.
“Much of the genome remains inaccessible and as the GemCode Platform sheds new light on dark areas of the genome, it is important to contribute to community data standards and tools to further enhance our understanding of the genome,” said Michael Schnall-Levin, VP of Computational Biology and Applications at 10X Genomics. “We are pleased to make this new data public as we contribute to the partnership between industry and government that is setting standards for revealing the true value of genomic sequencing.”
The GemCode Platform is a molecular barcoding and analysis suite that delivers structural variants, haplotypes, and other valuable long range information, utilizing current short read sequencers to generate a powerful new data type: Linked-Reads.
“From the beginning we have said we would change the definition of sequencing. As part of that mission, we are committed to helping set government and industry standards in the world of genome sequencing,” said Serge Saxonov, CEO of 10X Genomics.
The NIST data will also be discussed in a webinar hosted by 10X Genomics.
Gene Editing Technology May Improve Accuracy of Predicting Heart Disease RiskNews
Scientists may now be able to predict whether carrying a specific genetic variant increases a person’s risk for disease using gene editing and stem cell technologies.READ MORE
Genetic Discovery Helps Determine the Difference Between Aggressive & Benign Bone TumorsNews
The first genetic marker for the bone tumor, osteoblastoma, has been discovered. Whole-genome and transcriptome sequencing of human bone tumors revealed that a genetic change that affects the transcription factor, FOS, is a hallmark mutation of osteoblastoma. The results will help clinicians correctly distinguish benign osteoblastoma tumors from aggressive osteosarcoma tumors and direct the correct treatment.READ MORE