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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken, William L; Falabella, Micol; Pizzamiglio, Chiara; Woodward, Cathy E; Scotchman, Elizabeth; Chitty, Lyn S; Polke, James M; Bugiardini, Enrico; Hanna, Michael G; Vandrovcova, Jana; Chandler, Natalie; Labrum, Robyn; Pitceathly, Robert D S.
Affiliation
  • Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Falabella M; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Woodward CE; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Scotchman E; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Chitty LS; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Polke JM; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Bugiardini E; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Hanna MG; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Vandrovcova J; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Chandler N; Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Labrum R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Pitceathly RDS; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.
Expert Rev Mol Diagn ; 23(9): 797-814, 2023.
Article in En | MEDLINE | ID: mdl-37642407
Mitochondria generate our bodies' energy, and they contain their own circular DNA molecules. Changes in this mitochondrial DNA can cause a wide range of genetic diseases. Improved computer processing of the sequence of this DNA and new techniques that can read the full DNA sequence in one experiment may enhance our ability to understand these genetic variants.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Genome, Mitochondrial Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Expert Rev Mol Diagn Journal subject: BIOLOGIA MOLECULAR Year: 2023 Document type: Article Affiliation country: Reino Unido
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Genome, Mitochondrial Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Expert Rev Mol Diagn Journal subject: BIOLOGIA MOLECULAR Year: 2023 Document type: Article Affiliation country: Reino Unido