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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

10xgenomics.com-og

 

 

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.

GemCode

 

 

 

 

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.

Registration is closed.

 

Details

Date:
January 27
Time:
10:00 AM - 11:00 AM

Venue

CGRC Room 133
2033
Gainesville, FL United States

Organizer

ICBR
Phone:
(352) 273-8030
Email:
ICBR-ContactUs@ad.ufl.edu
Website:
www.biotech.ufl.edu