Simultaneous Analysis of 50+ Different Repeat Expansions with Twist Target Enrichment and PacBio HiFi Sequencing
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Presenting Author - Tina Han, PhD; Co-Author - Holly Corbitt, PhD; Co-Author - Egor Dolzhenko, PhD; Co-Author - Nina Gonzaludo, PhD; Co-Author - Sarah Kingan, PhD; Co-Author - Po-Yuan Tung, PhD; Co-Author - Esteban Toro, PhD; Co-Author - Chad Locklear, MS;
Meta Tag
Bioinformatics
Genetic Testing
Genome sequencing
Genomic Methodologies
Methodology
NextGen Sequencing
Triplet and Other Repeats
Co-Author Holly Corbitt, PhD
Co-Author Egor Dolzhenko, PhD
Co-Author Nina Gonzaludo, PhD
Co-Author Sarah Kingan, PhD
Co-Author Po-Yuan Tung, PhD
Co-Author Esteban Toro, PhD
Co-Author Chad Locklear, MS
Presenting Author Tina Han, PhD
Keywords
repeat expansions
target enrichment
PacBio HiFi sequencing
gene panels
short tandem repeats
SMRTbell library preparation
methylation levels
clinical validation
Tandem Repeat Genotyper Tool
structural variation

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