title: Next generation sequencing technologies for rare Mendelian disorders: striking potential and ongoing challenges.
authors.affiliation: Ruhr-University Bochum, Department of Human Genetics, Bochum, Germany. Electronic address: sabine.hoffjan@rub.de.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
mesh_terms: D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D035583:Rare Diseases / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods