Linked-Reads: Enabling Robust Genome Analysis from Dried Blood Spots
Madhuri Hegde, PhD, FACMG
Tuesday, November 21, 2017
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Chapters
Introduction
Perkinelmer #1 Newborn Screening Company
PerkinElmer Genetics: Global Genetic Lab Services
Current and Future Direction of Genomic Testing
Mutation Spectrum
Genome Sequencing
Adult Genome Sequencing
GS data Analysis
Whole Genome Sequencing
PKI and GIAB Variant Comparison
Challenges
PerkinElmer/10x Genomics
™
DBS Workflow
What do Linked-Reads Enable?
Short-Reads Cannot Place Reads Correctly in Difficult to Align Regions
Linked-Reads Can by Using Barcoded Anchors
Length Requirements for Linked-Reads vs. Blood Spot Length
Dried Blood Spot Sequencing Metrics
Mean Length from Dried Blood Spot Extractions: 10kb
Length Distribution Provides Long-Range Information
Access More of your Genome with Linked-Reads
Linked-Read Data Improves Per Gene Coverage
10x Outperforms Short Read Libraries in NGS "Dead Zones that Includes 73 Medically Relevant Genes
Variant Calling Performance
Triplet Repeat Disorders-Calling with HipSTR
Example Discrepancy: Phasing Required to Identify 2nd Allele
Triplet Repeat Expansion Section
Example SV: Heterozygous Deletion
Other SV Types Detected
ABCA7 VNTR Expansion
Chromium Genome Phasing Performance
Chromium Genome Phasing Example: SMN1 and SMN2
Conclusions and Future Directions
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