New Results
Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia
View ORCID ProfileJamie M Ellingford, Glenda Beaman, Kevin Webb, Christopher O’Callaghan, Robert A Hirst, on behalf of the 100,000 Genomes Project, Graeme CM Black, William G Newman
doi: https://doi.org/10.1101/438838
Jamie M Ellingford
1North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK
2Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Glenda Beaman
1North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK
2Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Kevin Webb
3Manchester Adult Cystic Fibrosis Centre, Manchester University Hospitals NHS Foundation Trust, Manchester, UK
Christopher O’Callaghan
4Respiratory, Critical Care and Anaesthesia, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Children’s Hospital & NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK
5Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester, UK
Robert A Hirst
5Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester, UK
Graeme CM Black
1North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK
2Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
William G Newman
1North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UK
2Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
Article usage
Posted October 10, 2018.
Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia
Jamie M Ellingford, Glenda Beaman, Kevin Webb, Christopher O’Callaghan, Robert A Hirst, on behalf of the 100,000 Genomes Project, Graeme CM Black, William G Newman
bioRxiv 438838; doi: https://doi.org/10.1101/438838
Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia
Jamie M Ellingford, Glenda Beaman, Kevin Webb, Christopher O’Callaghan, Robert A Hirst, on behalf of the 100,000 Genomes Project, Graeme CM Black, William G Newman
bioRxiv 438838; doi: https://doi.org/10.1101/438838
Subject Area
Subject Areas
- Biochemistry (11715)
- Bioengineering (8723)
- Bioinformatics (29128)
- Biophysics (14935)
- Cancer Biology (12049)
- Cell Biology (17359)
- Clinical Trials (138)
- Developmental Biology (9406)
- Ecology (14144)
- Epidemiology (2067)
- Evolutionary Biology (18268)
- Genetics (12221)
- Genomics (16767)
- Immunology (11843)
- Microbiology (28014)
- Molecular Biology (11560)
- Neuroscience (60810)
- Paleontology (450)
- Pathology (1864)
- Pharmacology and Toxicology (3231)
- Physiology (4940)
- Plant Biology (10384)
- Synthetic Biology (2878)
- Systems Biology (7333)
- Zoology (1642)