Your browser doesn't support javascript.
loading
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Cowley, Mark J; Liu, Yu-Chi; Oliver, Karen L; Carvill, Gemma; Myers, Candace T; Gayevskiy, Velimir; Delatycki, Martin; Vlaskamp, Danique R M; Zhu, Ying; Mefford, Heather; Buckley, Michael F; Bahlo, Melanie; Scheffer, Ingrid E; Dinger, Marcel E; Roscioli, Tony.
Affiliation
  • Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
  • Liu YC; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia.
  • Oliver KL; Population Health and Immunity Division, Walter and Eliza Hall Institute, Melbourne, Australia.
  • Carvill G; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
  • Myers CT; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.
  • Gayevskiy V; Population Health and Immunity Division, Walter and Eliza Hall Institute, Melbourne, Australia.
  • Delatycki M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
  • Vlaskamp DRM; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
  • Zhu Y; Department of Pediatrics, University of Washington, Seattle, WA.
  • Mefford H; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
  • Buckley MF; Austin Health, Melbourne, Australia.
  • Bahlo M; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.
  • Scheffer IE; Department of Medical Genetics, Royal North Shore Hospital, St Leonards, Australia.
  • Dinger ME; Department of Pediatrics, University of Washington, Seattle, WA.
  • Roscioli T; NSW Health Pathology Randwick, Sydney, Australia.
Hum Mutat ; 40(4): 374-379, 2019 04.
Article in En | MEDLINE | ID: mdl-30556619
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Mutational Analysis / Computational Biology / Mutation Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Australia Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Mutational Analysis / Computational Biology / Mutation Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Australia Country of publication: United States