Linked-Reads: Enabling Robust Genome Analysis from Dried Blood Spots
Madhuri Hegde, PhD, FACMG
Wednesday, November 29, 2017
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Chapters
Introduction
PerkinElmer (PKI) #1 Newborn Screening Company
PerkinElmer Genetics Global Genetic Lab Services
Current and Future Direction of Genomic Testing
Genome – genes, regulatory regions, everything else
Mutation spectrum
Genome sequencing
Phase II- Live recruitment
Newborn Genome Sequencing
Adult genome sequencing
GS data Analysis
Whole Genome Sequencing (GS)
Challenges
PerkinElmer / 10x Genomics™ DBS Workflow
What do Linked-Reads Enable?
Short-Reads Cannot Place Reads Correctly in Difficult to Align Regions
But 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
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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