Evaluation of Roche/NimbleGen exome capture products
Shrikant M. Mane, PhD
Wednesday, October 14, 2015
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Chapters
Introduction
Outline
YCGA: Sequencing Platforms at YCGA
Progress made at YCGA in the past five years
Sequencing the human exome
Sensitivity and precision rate from four variant calling pipelines
Testing of Exome Capture Kits
SeqCap EZ MedExome Kit
Comparison of V2 and MedExome Kit
Production Stats
Coverage for Medically relevant genes
Performance of V2 and MedExome
Exome cost reduction
Summary and Current Status
Exome Analysis Experience at Yale
List of select publications resulting form usage of Roche
Identification of disease causing point mutation
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Recurrent RAC1P29S mutation in malignant melanoma
The Centers for Mendelian Genomics
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