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DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: A framework for the clinical implementation of optical genome mapping in hematologic malignancies Destination: atl_AJH_27175_ Children: Item: Title: 1 INTRODUCTION Destination: HeadingAJH_27175ajh27175-sec-0001 Children: Item: Title: 1.1 Conventional cytogenetic testing Destination: HeadingAJH_27175ajh27175-sec-0002 Item: Title: 1.2 Optical Genome Mapping-The technique Destination: HeadingAJH_27175ajh27175-sec-0003 Item: Title: 1.3 Concordance studies between conventional cytogenetics and OGM Destination: HeadingAJH_27175ajh27175-sec-0004 Item: Title: 1.4 The OGM framework Destination: HeadingAJH_27175ajh27175-sec-0005 Item: Title: 2 VALIDATION Destination: HeadingAJH_27175ajh27175-sec-0006 Children: Item: Title: 2.1 Clinical utility Destination: HeadingAJH_27175ajh27175-sec-0007 Item: Title: 2.2 Proof of principle Destination: HeadingAJH_27175ajh27175-sec-0008 Item: Title: 2.3 Method validation Destination: HeadingAJH_27175ajh27175-sec-0009 Children: Item: Title: 2.3.1 Validation cohort size and specimen type Destination: HeadingAJH_27175ajh27175-sec-0010 Item: Title: 2.3.2 Expected test performance Destination: HeadingAJH_27175ajh27175-sec-0011 Item: Title: 2.3.3 Reproducibility Destination: HeadingAJH_27175ajh27175-sec-0012 Item: Title: 2.3.4 Limit of detection Destination: HeadingAJH_27175ajh27175-sec-0013 Item: Title: 2.4 Clinical validation Destination: HeadingAJH_27175ajh27175-sec-0014 Item: Title: 2.5 Implementation Destination: HeadingAJH_27175ajh27175-sec-0015 Item: Title: 3 QUALITY CONTROL CONSIDERATIONS Destination: HeadingAJH_27175ajh27175-sec-0016 Children: Item: Title: 3.1 Samples Destination: HeadingAJH_27175ajh27175-sec-0017 Item: Title: 3.2 Pre-analytical phase Destination: HeadingAJH_27175ajh27175-sec-0018 Children: Item: Title: 3.2.1 Cell input, DNA concentration, and DNA isolation Destination: HeadingAJH_27175ajh27175-sec-0019 Item: Title: 3.3 Analytic phase-Quality control parameters Destination: HeadingAJH_27175ajh27175-sec-0020 Children: Item: Title: 3.3.1 Bioinformatic assembly pipelines Destination: HeadingAJH_27175ajh27175-sec-0021 Item: Title: 3.4 Post-analytic quality parameters Destination: HeadingAJH_27175ajh27175-sec-0022 Children: Item: Title: 3.4.1 Sub-optimal analyses Destination: HeadingAJH_27175ajh27175-sec-0023 Item: Title: 3.4.2 Low quality samples, clinical necessity, and irreplaceable samples Destination: HeadingAJH_27175ajh27175-sec-0024 Item: Title: 4 DATA EVALUATION, INTERPRETATION, AND REPORTING Destination: HeadingAJH_27175ajh27175-sec-0025 Children: Item: Title: 4.1 General considerations Destination: HeadingAJH_27175ajh27175-sec-0026 Item: Title: 4.2 Using the rare variant assembly Destination: HeadingAJH_27175ajh27175-sec-0027 Item: Title: 4.3 Phases of analysis Destination: HeadingAJH_27175ajh27175-sec-0028 Item: Title: 4.4 Criteria for variant review Destination: HeadingAJH_27175ajh27175-sec-0029 Children: Item: Title: 4.4.1 Intra- and inter-chromosomal fusions (i.e., translocation, large insertions, and inversions) Destination: HeadingAJH_27175ajh27175-sec-0030 Item: Title: 4.4.2 Unbalanced SVs called by the SV algorithm (i.e., deletions, duplications and insertions <500kb) Destination: HeadingAJH_27175ajh27175-sec-0031 Item: Title: 4.4.3 Large CNA calls (>500kb) and aneuploidies Destination: HeadingAJH_27175ajh27175-sec-0032 Item: Title: 4.5 Enumerating ``cytogenetically visible´´ events Destination: HeadingAJH_27175ajh27175-sec-0033 Item: Title: 4.6 Loss of heterozygosity and ploidy analysis Destination: HeadingAJH_27175ajh27175-sec-0034 Item: Title: 4.7 Classification of variants using a 4-Tier system Destination: HeadingAJH_27175ajh27175-sec-0035 Item: Title: 4.8 Filtering variants with disease specific region files Destination: HeadingAJH_27175ajh27175-sec-0036 Item: Title: 4.9 OGM clinical report Destination: HeadingAJH_27175ajh27175-sec-0037 Item: Title: 5 DISCUSSION Destination: HeadingAJH_27175ajh27175-sec-0038 Children: Item: Title: 5.1 Harmonization of clinical variant reporting Destination: HeadingAJH_27175ajh27175-sec-0039 Item: Title: 5.2 Loss of heterozygosity and ploidy Destination: HeadingAJH_27175ajh27175-sec-0040 Item: Title: 5.3 Genomic complexity and complex karyotypes Destination: HeadingAJH_27175ajh27175-sec-0041 Item: Title: 6 CONCLUSIONS Destination: HeadingAJH_27175ajh27175-sec-0042 Item: Title: ACKNOWLEDGMENTS Destination: HeadingAJH_27175ajh27175-sec-0043 Item: Title: CONFLICT OF INTEREST STATEMENT Destination: HeadingAJH_27175ajh27175-sec-0044 Children: Item: Title: DATA AVAILABILITY STATEMENT Destination: HeadingAJH_27175ajh27175-sec-0046 Item: Title: REFERENCES Destination: HeadingAJH_27175ajh27175-bibl-00011 Filters: FilterPipeline: FlateDecode FilterPipeline: DCTDecode Images: Image: NisoImageMetadata: FormatName: image/png ImageWidth: 228 ImageHeight: 45 ColorSpace: RGB BitsPerSample: 8 BitsPerSampleUnit: integer Filter: 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