title: Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation.
abstract: The content of the 13th Mutation Detection meeting (Leiden, April 2015) is summarized in this report. Topics discussed at the meeting included current challenges of clinical NGS, advances in bioinformatics, data quality control, single cell analysis and RNA sequencing, among others. Social, ethical and regulatory challenges of genomic data handling and data sharing were the focus of an expert panel debate. The 14th International Symposium on Variants in the Genome will take place in Santiago de Compostela, June 5-8, 2017. http://isv.variome.org.
authors.affiliation: Grupo de Medicina Xenómica, CeGen-PRB2, Instituto de Investigación Sanitaria de Santiago, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
authors.forename: María
authors.initials: M
authors.lastname: Torres-Español
authors.affiliation: Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
authors.forename: Seyed Yahya
authors.initials: SY
authors.lastname: Anvar
authors.affiliation: Neurogenetics Group, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago, Santiago de Compostela, Spain. Maria.Jesus.Sobrido.Gomez@sergas.es.
authors.forename: María-Jesús
authors.initials: MJ
authors.lastname: Sobrido
mesh_terms: D002874:Chromosome Mapping; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics / Q000379:methods; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods*; D017423:Sequence Analysis, RNA / Q000379:methods*