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- LibraryPrep o Starting material o Overview of different techniques o Panel design (commercial and custom panels), LibraryPrep - NGS o Requirements o Sequencing methods - Data analysis o Requirements o Bcl2Fastqs, fastq.file o Mapping sequences to the reference genome: bam.files o Quality parameters: fastQC, demultiplexing Stats, read counts, coverage, read distribution, deduplication rate o SNP and small InDels calling, copy number analysis, LOH analysis, fusion analysis - Data interpretation, hands on part: o AMP / ASCO / CAP guideline (PMID: 27993330) o Mutations, small InDels → IGV, OncoKG, InterVar, QCI: hands on interpretation o Copy number variations / LOH o RNA-Fusion → Cosmic Fusion curation - Wrap up: Learning content summary, Quiz
德国协会的第68届年会
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