title: Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias.
abstract: BACKGROUND
  Next-generation sequencing (NGS) is nearing routine clinical application, especially for diagnosis of rare monogenic cardiovascular diseases. But NGS uncovers so much variation in an individual genome that filtering steps are required to streamline data management. The first step is to determine whether a potential disease-causing variant has been observed previously in affected patients.
  
  
  METHODS
  To facilitate this step for lipid disorders, we developed the Western Database of Lipid Variants (WDLV) of 2776 variants in 24 genes that cause monogenic dyslipoproteinemias, including conditions characterized primarily by either high or low low-density lipoprotein cholesterol, high or low high-density lipoprotein cholesterol, high triglyceride, and some miscellaneous disorders. We incorporated quality-control steps to maximize the likelihood that a listed mutation was disease causing.
  
  
  RESULTS
  The details of each mutation found in a dyslipidemia, together with a mutation map of the causative genes, are shown in graphical display items.
  
  
  CONCLUSIONS
  WDLV will help clinicians and researchers determine the potential pathogenicity of mutations discovered by DNA sequencing of patients or research participants with lipid disorders.
authors.affiliation: Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, University of Western Ontario, London, Ontario, Canada.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Fu
authors.forename: Samantha
authors.initials: S
authors.lastname: Kwok
authors.forename: Leah
authors.initials: L
authors.lastname: Sinai
authors.forename: Omar
authors.initials: O
authors.lastname: Abdel-Razek
authors.forename: Janet
authors.initials: J
authors.lastname: Babula
authors.forename: Dennis
authors.initials: D
authors.lastname: Chen
authors.forename: Emma
authors.initials: E
authors.lastname: Farago
authors.forename: Nigel
authors.initials: N
authors.lastname: Fernandopulle
authors.forename: Sean
authors.initials: S
authors.lastname: Leith
authors.forename: Melissa
authors.initials: M
authors.lastname: Loyzer
authors.forename: Catherine
authors.initials: C
authors.lastname: Lu
authors.forename: Niyati
authors.initials: N
authors.lastname: Malkani
authors.forename: Nicole
authors.initials: N
authors.lastname: Morris
authors.forename: Mandi
authors.initials: M
authors.lastname: Schmidt
authors.forename: Randa
authors.initials: R
authors.lastname: Stringer
authors.forename: Heather
authors.initials: H
authors.lastname: Whitehead
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Ban
authors.forename: Joseph B
authors.initials: JB
authors.lastname: Dubé
authors.forename: Adam
authors.initials: A
authors.lastname: McIntyre
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Johansen
authors.forename: Henian
authors.initials: H
authors.lastname: Cao
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Robert A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D001483:Base Sequence; D030561:Databases, Nucleic Acid; D050171:Dyslipidemias / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA