This page collects items for the course "reading list" (and beyond). Since the repository is public, we're not able to provide direct downloads as part of the repository, but link here to the source material either at secure UZH locations or at the publishers' sites (with access then through the authentication system, then.).
- Heather and Chain (2016): The sequence of sequencers PDF
- Zweig et al (2008): UCSC genome browser tutorial PDF
- Schattner (2009): Genomics made easier PDF
- Gao, Huang & Baudis (2018): segment_liftover : a Python tool to convert segments between genome assemblies. Link
- 1000 Genomes PDF
- Evans et al: Finding the Rare Pathogenic Variants in a Human Genome PDF
- TCGA Project - The Cancer Genome Atlas Pan Cancer analysis project - Nature Genetics PDF
- den Dunnen and Antonorakis (2000): Mutation Nomenclature Extensions (i.e. "HGVS") - pdf
- den Dunnen et al. (2016): HGVS Nomenclature Update PDF
- Sondka et al. - COSMIC Cancer Gene Census - Nature Reviews Cancer (2018-10-09) PDF
- S. Samarajiwa - Genome Browsers (2018-10-09) slides
- Gymrek et al. - Identifying Personal Genomes by Surname Inference (Science, 2013-01-18) PDF
- Erlich and Narayanan2 - Routes for breaching and protecting genetic privacy (2014-06-17; Nat Rev Gen) PDF
- Shringarpure-and-Bustamante - Privacy Risks from Genomic Data-Sharing Beacons PDF
- 1000 Genomes (2015): A global reference for human genetic variation PDF
- TCGA Project (2013): The Cancer Genome Atlas Pan-Cancer analysis project PDF
- Griffith et al (2015): CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer PDF
- Sunyaev (2012): Inferring causality and functional significance of human coding DNA variants PDF
- Freeman et al (2006): Copy number variation: new insights in genome diversity PDF
- Deng et al (2017): Comparative genomic analysis of esophageal squamous cell carcinoma between Asian and Caucasian patient populations PDF
- Zehir et al (2017): Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients PDF
- Koboldt et al (2012): VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing PDF
- Sophie Zaaijer - Rapid DNA identification (with nanopore sequencing) PDF and webpage about the project; also with a direct video link
- Mark Gerstein (Yale): Lecture slides "Analyzing Personal Genomes: Prioritizing High-impact Rare & Somatic Variants" PDF