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Environmental Microbiology, ISSN 1462-2912, 04/2016, Volume 18, Issue 4, pp. 1137 - 1147
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 11/2019, Volume 9, Issue 1, pp. 1 - 16
Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development of precision oncology treatments based on a... 
LUNG-CANCER | HEAD | DNA | MULTIDISCIPLINARY SCIENCES | GUIDELINES | SQUAMOUS-CELL CARCINOMA | GERMLINE VARIANTS | MUTATIONS | NECK | Next-generation sequencing | Gene frequency | Biopsy | Genetic testing | Bioinformatics | Deoxyribonucleic acid--DNA | Cancer | DNA sequencing | Tumors
Journal Article
Oncogene, ISSN 0950-9232, 03/2019, Volume 38, Issue 10, pp. 1661 - 1675
Journal Article
Nature Communications, ISSN 2041-1723, 02/2016, Volume 7, Issue 1, p. 10767
Journal Article
Journal Article
Bioinformatics, ISSN 1367-4803, 01/2019, Volume 35, Issue 1, pp. 122 - 125
Abstract Motivation Genome sequencing has had a remarkable impact on our ability to study the effects of human genetic variation, however, variant... 
GERMLINE | VARIANTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | FRAMEWORK | MUTATIONS | Applications Notes
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 542 - 552
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1564 - 1574
Purpose: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed... 
cost-effectiveness | Mendelian | diagnosis | genomics | exome | METABOLIC CRISES | GENETICS & HEREDITY | MUTATIONS | GENOME | TOOL | Cost analysis | Cost control
Journal Article
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 650 - 662
Purpose: We evaluated genome sequencing (GS) as an alternative to multigene panel sequencing (PS) for genetic testing in dilated cardiomyopathy (DCM). Methods:... 
genome sequencing | Panel sequencing | Molecular diagnosis | Familial dilated cardiomyopathy | Genetic testing | STATEMENT | EXOME | DISEASE | COMPLEXITY | MUTATION | GENETICS & HEREDITY | STANDARDS
Journal Article