10xgenomics

Mickael Ploquin (10xgenomics)
Thursday, March 23, 2017 - 10:30
Room Metivier
Talk abstract: 

HUMAN GENETICS
10x’s products enable a deeper understanding of human genetics.Long range phasing and resolution of structural variants are crucial content for genetic studies.

LONG RANGE PHASING
10x’s GemCode Technology uncovers long range phasing of SNPs. The Chromium™ Whole Exome Sequencing Kit phases SNPs and indels to reveal critical cis/trans relationships, including across genes with long introns.

 
The human genome is diploid, with each cell containing a copy of both the maternal and paternal chromosomes. A comprehensive understanding of human genetic variation requires identification of the order, structure and origin of these sets of alleles and their variants across the genome. Haplotypes, the contiguous phased blocks of genomic variants specific to a given homolog, are essen­tial to such analysis. Genome-scale haplotype analysis has many advantages in genetic studies. Phasing of germline variants can be used to identify causative mutations in pedigrees, determine the structure of genomic rearrangement events and unravel cis- versus trans-relationships of ostensibly linked variants

SINGLE CELL

High-throughput, single-cell expression measurements enable discovery of gene expression dynamics for profiling individual cell types. the Chromium Single Cell Controller which is a dedicated instrument for single cell applications and features a simple and comprehensive workflow, enabling users to quickly and easily prepare single cell sequencing libraries in less than one workday. With the unique ability to interrogate hundreds to millions of cells, the Single Cell Chromium Controller supports a variety of applications, including the existing Chromium™ Single Cell 3’ Solution for single cell transcriptomics, as well as a potential future product featuring the ability to perform full-length sequencing of paired expressed V(D)J segments from single B or T cells.