title: Exome and whole-genome sequencing for gene discovery: the future is now!
authors.affiliation: Rare Disease Consortium for Autosomal Loci, Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenblatt
mesh_terms: D059472:Exome; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009135:Muscular Diseases / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software