title: The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.
authors.affiliation: School of Computing, University of Utah, Salt Lake City, Utah, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Might
authors.affiliation: PO Box 74, Menlo Park, California, USA.
authors.forename: Matt
authors.initials: M
authors.lastname: Wilsey
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D060746:Endoplasmic Reticulum-Associated Degradation / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics*
chemical_list: D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase