Introduction to NGS technologies - Bioinformatics and Genomics ...

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The aim: Extracting as much information as possible for one single data
High Throughput Technologies • 1988 arrayed DNAs were used • 1991 oligonucleotides are synthesized on a glass slide through pho<strong>to</strong>lithography (Affymax Research Institute) • 1995 DNA Microarrays • 1997 Genome wide Yeast Microarray Nature Miles<strong>to</strong>nes DNA Technologies
Page 1 and 2: Introduction to NGS Technologies Ja
Page 3: Genetic Research …code for protei
Page 8 and 9: Next Generation Sequencing 600 Gbp
Page 10 and 11: History of DNA Sequencing 1 15 150
Page 12 and 13: Pre & Post-genomic databases EMBL d
Page 14 and 15: Pre & Post-genomic databases EMBL d
Page 17 and 18: Relative throughput of the differen
Page 19 and 20: Basics of the “old” technology
Page 21 and 22: Whole Genome RNA Communities Sanger
Page 23 and 24: Differences between the various pla
Page 25 and 26: Similarities- LOTS of DATA General
Page 27 and 28: 3 main platforms: - Solexa/illumina
Page 29 and 30: Roche 454 pyrosequencing
Page 31 and 32: Roche / 454 : GS FLX • Good for
Page 33 and 34: GS Junior, benchtop
Page 35 and 36: Solexa / illumina From Michael Metz
Page 37 and 38: Solexa / illumina From Debbie Nicke
Page 39 and 40: Illumina-MiSeq 175-245 Mb 4h 1x 36b
Page 41 and 42: SOLiD
Page 43: SOLiD From Michael Metzker, http://
Page 46 and 47: SOLiD_Dibase_Sequencing_and_Color_S
Page 49 and 50: AB SOLiD: Dibase Sequencing AB SOLi
Page 51 and 52: AB SOLiD: Dibase Sequencing AB SOLi
Page 53 and 54: 5500XL SOLiD 200 Gb/run (microbeads
Page 55 and 56: PacBio From Michael Metzker, http:/
Page 57 and 58:
Ion Torrent $ 50.000 $ 500 /sample
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OXFORD NANOPORE The MinION is a mem
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Basic steps NGS data processing QC
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Basic steps NGS data processing QC
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File formats fastq: sequence data a
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DNA sequencing - 1 • Whole GENOME
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DNA sequencing - 3 • Whole EXOME
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DNA sequencing - 5 • Amplicon seq
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Transcriptomics - 1 • RNA-Seq - S
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Applications of RNAseq Qualitative:
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Advantages of RNAseq? RNAseq microa
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TFBS detection ChIP-Seq - Identific
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Egigenomics - 2 • Methyl-Seq - Cp
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Metagenomics The application of mod
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Successful NGStories
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Species composition of metagenomic
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Andalusian Human Genome Sequencing
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SEQUENCING LAB
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High Performance Computing Cluster
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Services at CASEGH
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The MGP Scope and Aims • Medical
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Exome capture • Focus on the Most
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Normalized coverage Exome capture r
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Bioinformatic analysis Primary anal
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New Variation Types
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The principle: comparison of patien
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The principle: comparison of patien
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Filtering with multiple family info
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NGS is revolutionizing how we do ge
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NGS is revolutionizing how we do ge
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