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10.1093/annonc/mdx037

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suck abstract from ncbi


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pmid28453708
      Ann+Oncol 2017 ; 28 (5 ): 1145-1151
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  • Towards a global cancer knowledge network: dissecting the current international cancer genomic sequencing landscape #MMPMID28453708
  • Vis DJ ; Lewin J ; Liao RG ; Mao M ; Andre F ; Ward RL ; Calvo F ; Teh BT ; Camargo AA ; Knoppers BM ; Sawyers CL ; Wessels LFA ; Lawler M ; Siu LL ; Voest E
  • Ann Oncol 2017[May]; 28 (5 ): 1145-1151 PMID28453708 show ga
  • BACKGROUND: While next generation sequencing has enhanced our understanding of the biological basis of malignancy, current knowledge on global practices for sequencing cancer samples is limited. To address this deficiency, we developed a survey to provide a snapshot of current sequencing activities globally, identify barriers to data sharing and use this information to develop sustainable solutions for the cancer research community. METHODS: A multi-item survey was conducted assessing demographics, clinical data collection, genomic platforms, privacy/ethics concerns, funding sources and data sharing barriers for sequencing initiatives globally. Additionally, respondents were asked as to provide the primary intent of their initiative (clinical diagnostic, research or combination). RESULTS: Of 107 initiatives invited to participate, 59 responded (response rate?=?55%). Whole exome sequencing (P?=?0.03) and whole genome sequencing (P?=?0.01) were utilized less frequently in clinical diagnostic than in research initiatives. Procedures to identify cancer-specific variants were heterogeneous, with bioinformatics pipelines employing different mutation calling/variant annotation algorithms. Measurement of treatment efficacy varied amongst initiatives, with time on treatment (57%) and RECIST (53%) being the most common; however, other parameters were also employed. Whilst 72% of initiatives indicated data sharing, its scope varied, with a number of restrictions in place (e.g. transfer of raw data). The largest perceived barriers to data harmonization were the lack of financial support (P?
  • |*Genetic Association Studies [MESH]
  • |DNA Mutational Analysis [MESH]
  • |Databases, Genetic [MESH]
  • |Exome Sequencing [MESH]
  • |Genetic Predisposition to Disease [MESH]
  • |Genome, Human [MESH]
  • |Humans [MESH]
  • |Molecular Sequence Annotation [MESH]
  • |Neoplasms/*genetics [MESH]


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