- Page 1 and 2: Introduction to NGS Technologies Ja
- Page 3: Genetic Research …code for protei
- Page 7 and 8: High Throughput Technologies • 19
- Page 9 and 10: Next Generation Sequencing SOLID 12
- Page 11 and 12: Date Cost per Mb Cost per Genome Da
- Page 13 and 14: Pre & Post-genomic databases EMBL d
- Page 15: The size of the human genome is ~ 3
- Page 18 and 19: Relative throughput of the differen
- Page 20 and 21: Basics of the “new” Technology
- Page 22 and 23: NGS technologies Cost-effective Fas
- Page 24 and 25: Similarities- LOTS of DATA General
- Page 26 and 27: Next-gen sequencers From John McPhe
- Page 28 and 29: 454 (Roche) -First next generation
- Page 30 and 31: Roche 454 pyrosequencing
- Page 32 and 33: Roche 454
- Page 34 and 35: Solexa (Illumina) •Over 90% of al
- Page 36 and 37: Solexa / illumina From Michael Metz
- Page 38 and 39: Illumina-HiSeq 2500 600 Gb/run in 1
- Page 40 and 41: •Colorspace SOLiD (ABI / Life Tec
- Page 42 and 43: SOLiD * Sequencing output in “col
- Page 45 and 46: SOLiD_Dibase_Sequencing_and_Color_S
- Page 47: SOLiD color space SOLiD_Dibase_Sequ
- Page 50 and 51: AB SOLiD: Dibase Sequencing AB SOLi
- Page 52 and 53: AB SOLiD: Variations SOLiD_Dibase_S
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SOLiD 5500 *Sixth 3-based encoded p
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Pacific Bioscience SMRT: Singel Mol
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Ion Proton
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Comparison Roche 454 Illumina SOLiD
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Basic steps NGS data processing QC
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Basic steps NGS data processing QC
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Most common applications of NGS RNA
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DNA sequencing - 2 • Whole GENOME
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• Targeted Resequencing - Capture
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Transcriptomics - 1 • RNA-Seq - S
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Transcriptomics - 2 • SAGE. Seria
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Applications of RNAseq Qualitative:
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Transcriptomics - 3 • miRNA/small
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Egigenomics - I Epigenomics refers
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Egigenomics - 2 MeDIP-Seq, methylat
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Census NGS methods
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Miller syndrome
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No so far…. Sequencing Centers
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CASEGH
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Two technologies to scan for variat
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Bioinformatics Unit 24 High Perform
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The Medical Genome Project (MGP) Pu
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The MGP Scope and Aims • Medical
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Normalized coverage Exome capture r
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Exome sequencing work-flow for Vari
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SNPs distribution across samples
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Secondary analysis: Finding the mut
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The principle: comparison of patien
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Is this approach realistic? Can we
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Clear individual gene associations
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NGS is revolutionizing how we do ge
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