List of Publications Faculty Opponent

This thesis is based on the following publications, which are referred to in the text by their Roman numerals. " Silhouette " scores for assessment of SNP genotype clusters. BMC Genom-ics.resolution, high-throughput SNP mapping in Drosophila melanogaster. Positional cloning by fast-track SNP-mapping in Droso-phila melanogaster. Dried reagents for multiplex genotyping by tag-array minisequencing to be used in micro-fluidic devices. Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. Submitted manuscript. Reprints were made with permission from the respective publishers. Multiplex padlock targeted sequencing reveals human hypermutable CpG variations. Genome Research. Abbreviations bp Base pair CNV Copy number variant dNTP Deoxynucleotide triphosphates ddNTP Dideoxynucleotide triphosphates ExoI Exonuclease I GA Genome Analyzer InDel Insertion-deletion polymorphism kb Kilobase pair Mb Megabase pair MIP Molecular inversion probe MPS Massively parallel sequencing nt Nucleotide PCR Polymerase chain reaction RFLP Restriction fragment length polymorphisms SAP Shrimp alkaline phosphatase SBE Single base primer extension SBS Sequencing by synthesis SNP Single nucleotide polymorphism µ-TAS Micro-total analysis systems 13 Introduction