12、国外研究所收集谷歌-ngs pipeline的genome

1、Next Generation SequencingA paradigm shift practice with great opportunity and challengeNext Generation SequencingWhat can NGS do:Detects nucleotide substitutionDetects indelDetects CNVDetects translocationDetects inversionDetects methylationNext Generation SequencingWhat are involved to do NGS:Pane

2、l design and target captureBar-coding for multiplexingSequencing (choices of platform)Informatics infrastructureSequence data analysis pipelinesData (Variant interpretation)100Mb $500 100bp/readsExamples of NGS platformsMi-Seq1-1.5Gb $1200 150bp/runSanger vs. NGSSanger sequencing next generation seq

3、uencingAnalyzing the clinical significance of the variantsVAST ARRAY OF GENETIC DISORDERSChromosomal Trisomies, aneuploidies, etc.MetabolicSLO, CDG, many othersOrgan SpecificCardiopathies, GI, RenalProteinDMD, Huntington, ImmunoglobulinsCancerAt risk mutationsAnd On and OnVariant categorization Know

4、n deleterious (condition relevant and incidental)Presumed deleteriousVUS (variants of undetermined significance)Presumed benignKnown benignReportabilityClinically actionable-YESClinically valid but not actionable-YES/NOUnknown or no clinical significanceNOPresumed benign/known benign-NOCounselingPre-testPost-testUpdateWho gets the test? Who should know the results? (part of the results or all)448 severe recessive childhood diseases7717 regions from 437 target genes93% of target nucleotide with 20X coverage95% sen