Introduction to NGS technologies - Bioinformatics and Genomics ...

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Relative throughput of the different HT technologies NGS emerges with a potential of data production that will, eventually wipe out conventional HT technologies in the years coming Too many sequences to be handled in a standard computer
Basics of the “old” technology •Clone the DNA. •Generate a ladder of labeled (colored) molecules that are different by 1 nucleotide. •Separate mixture on some matrix. •Detect fluoroscope by laser. •Interpret peaks as string of DNA. •Strings are 500 to 1,000 letters long •1 machine generates 57,000 nucleotides/run •Assemble all strings into a genome.
Page 1 and 2: Introduction to NGS Technologies Ja
Page 3: Genetic Research …code for protei
Page 6 and 7: The aim: Extracting as much informa
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: Relative throughput of the differen
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
Page 59 and 60: OXFORD NANOPORE The MinION is a mem
Page 61 and 62: Basic steps NGS data processing QC
Page 63 and 64: Basic steps NGS data processing QC
Page 65 and 66: File formats fastq: sequence data a
Page 67 and 68: 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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