Bioinformatica. Dr. Marco Fondi Lezione # 6. Corso di Laurea in Scienze Biologiche, AA

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1 Bioinformatica Dr. Marco Fondi Lezione # 6 Corso di Laurea in Scienze Biologiche, AA martedì 30 ottobre

2 Sequenziamento ed analisi di genomi: la genomica 2 martedì 30 ottobre 2012

3 martedì 30 ottobre

4 martedì 30 ottobre

5 martedì 30 ottobre 2012

6 martedì 30 ottobre

7 Next Generation Sequencing 454, Roche ABI's SOLiD Method. Solexa, Illumina PACIFIC BIOSCIENCES Desktop Ion torrent 454 GS junior Illumina miseq martedì 30 ottobre 2012

8 martedì 30 ottobre 2012

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12 3 Main Technologies Solid

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15 Credit: Illumina

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26 The development and impact of 454 sequencing Jonathan M Rothberg & John H Leamon Nature Biotechnology 26, (2008) Published online: 9 October 2008 doi: /nbt1485

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30 Genome Biol. 2009; 10(3): R32. Published online 2009 March 27. doi: / gb r32. Evaluation of next generation sequencing platforms for population targeted sequencing studies

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32 Sequencing technologies the next generation Michael L. Metzker Nature Reviews Genetics 11, (January 2010) doi: /nrg2626

33 Storage

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36 Genome Biol. 2010;11(5):207. Epub 2010 May 5. The case for cloud computing in genome informatics.

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42 FASTQ

43 @IL31_4368:1:1:996:8507/2 TCCCTTACCCCCAAGCTCCATACCCTCCTAATGCCCACACCTCTTACCTTAGGA + CAAAAACTTTCACTTTACCTGCCGGGTTTCCCAGTTTACATTCCACTGTTTGAC + GATCTTCTGTGACTGGAAGAAAATGTGTTACATATTACATTTCTGTCCCCATTG + CAGCCTCAGATTCAGCATTCTCAAATTCAGCTGCGGCTGAAACAGCAGCAGGAC + AATGTTCTGAAACCTCTGAGAAAGCAAATATTTATTTTAATGAAAAATCCTTAT + ACATTTACCAAGACCAAAGGAAACTTACCTTGCAAGAATTAGACAGTTCATTTG + CCCACCTCTCTCAATGTTTTCCATATGGCAGGGACTCAGCACAGGTGGATTAAT (...)

44 Solexa/Illumina Read Format The syntax of Solexa/Illumina read format is almost identical to the FASTQ format, but the qualities are scaled differently. Given a character $sq, the following Perl code gives the Phred quality $Q: $Q = 10 * log( ** (ord($sq) - 64) / 10.0)) / log(10);

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46 martedì 30 ottobre strategy

47 Genomica: le 4 A Genomica: le 4 fasi 1. Assemblaggio 2. Assegnazione 3. Annotazione 4. Analisi (genomica comparativa) venerdì 17 dicembre 2010

48 Genomica: le 4 A Genomica: le 4 fasi 1. Assemblaggio 2. Assegnazione 3. Annotazione 4. Analisi (genomica comparativa) venerdì 17 dicembre 2010

49 genoma 454, Roche ABI's SOLiD Method. Solexa, Illumina venerdì 17 dicembre 2010

50 genoma 454, Roche ABI's SOLiD Method. Solexa, Illumina venerdì 17 dicembre 2010

51 genoma 454, Roche ABI's SOLiD Method. Solexa, Illumina campione venerdì 17 dicembre 2010

52 genoma 454, Roche ABI's SOLiD Method. Solexa, Illumina campione venerdì 17 dicembre 2010

53 454, Roche ABI's SOLiD Method. Solexa, Illumina sequenza genoma venerdì 17 dicembre 2010

54 454, Roche ABI's SOLiD Method. Solexa, Illumina sequenza genoma venerdì 17 dicembre 2010

55 454, Roche ABI's SOLiD Method. Solexa, Illumina reads sequenza genoma venerdì 17 dicembre 2010

56 genome venerdì 17 dicembre 2010

57 genome reads venerdì 17 dicembre 2010

58 genome reads reads assembly contigs A B C venerdì 17 dicembre 2010

59 contigs A B C GAP GAP venerdì 17 dicembre 2010

60 contigs A B C oppure GAP GAP contigs B A C GAP GAP venerdì 17 dicembre 2010

61 contigs A B C oppure GAP GAP contigs B A C GAP GAP oppure... venerdì 17 dicembre 2010

62 GAP closure 1 A B reads venerdì 17 dicembre 2010

63 GAP closure 1 A B reads no overlap? sì A B contig esteso venerdì 17 dicembre 2010

64 GAP closure 2 1. reference genome A B venerdì 17 dicembre 2010

65 GAP closure 2 1. reference genome A B 2. reference genome reads venerdì 17 dicembre 2010

66 GAP closure 2 1. reference genome A B 2. reference genome reads 3. reference genome A contig esteso B venerdì 17 dicembre 2010

67 giovedì 3 novembre 2011

68 draft genome giovedì 3 novembre 2011

69 complete genome draft genome giovedì 3 novembre 2011

70 giovedì 3 novembre 2011

71 giovedì 3 novembre 2011

72 giovedì 3 novembre 2011 Genoma completamente sequenziato

Next Generation Sequencing

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