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Seminar: GemCode™ Platform
January 27 @ 10:00 AM - 11:00 AM
GemCode™ Platform: Megabase Scale Phasing and Structural Variants
Long-Range Information from Linked-Read Data with Short-Read Sequencing
Speaker: Fran Moses, 10xGenomics
A full description of a diploid genome requires phasing, which assigns variants to homologous chromosomal copies. In particular, phasing of germ-line variants is used to distinguish SNVs from maternal or paternal descent, ascertain genomic rearrangement events, and unravel cis versus trans- relationships of ostensibly linked polymorphisms.
Phasing of cancer genomes has provided insights into linking specific alleles to aneuploid chromosomes, single copy deletions or amplifications and their subsequent allele-specific regulation and expression.
Phase information is critical for understanding loss of heterozygosity, rare or familial-SNPs and somatic mutations within individual genomes without having to rely on trio or other familial studies. Monogenic disorders mediated by the presence of compound heterozygotes highlight the importance of this information.
The presentation will:
- Cover how long range information is generated via linked-read data through automated massively partitioning and barcoding of HMW gDNA from ~1.2ng input during library construction of the NGS process.
- Demonstrate the utility in characterizing SV’s in cancer samples and others genomics applications from customer data.
- Discuss applications beyond human genomes.