308 results on '"Chaubey, Alka"'
Search Results
2. Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions
3. Making a Difference: Adaptation of the Clinical Laboratory in Response to the Rapidly Evolving COVID-19 Pandemic
4. Application of Optical Genome Mapping to the Risk Stratification and Treatment Optimization of Hematologic Diseases
5. Analytic Validation of Optical Genome Mapping in Hematological Malignancies
6. Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
7. Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?
8. Next-generation cytogenomics: High-resolution structural variation detection by optical genome mapping
9. Contributors
10. Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia
11. Genotoxic and mutagenic potential of 7-methylxanthine: an investigational drug molecule for the treatment of myopia.
12. Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping
13. 28. Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies
14. 47. Optical genome mapping in hematological malignancy: Clinical outcomes in a 2-year follow-up retrospective study
15. Correction: Optical Genome Mapping for Oncology Applications
16. 3. Application of optical genome mapping to identify samples with homologous recombination deficiency
17. 75. Novel complex translocation involving PDGFRA::PRKG2, in a myeloid neoplasm with basophilia sample by OGM
18. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability
19. Optical Genome Mapping for Oncology Applications
20. Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement
21. Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation
22. PB1833: STREAMLINED WORKFLOW FOR ANALYZING AND REPORTING OPTICAL GENOME MAPPING FOR HEMATOLOGICAL MALIGNANCIES IN BIONANO VIA SOFTWARE
23. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers
24. Clinical findings in individuals with duplication of genes associated with X‐linked intellectual disability.
25. P839: A curated research catalogue of structural variation detected by optical genome mapping
26. P746: Genome wide, high-throughput, high-resolution structural variation detection at low variant allele fraction for oncology samples
27. P573: Genome-wide short tandem repeat expansion screening using optical genome mapping*
28. Abstract 240: Comprehensive analytical solution to measure HRD genomic scars from SNP arrays, pan-cancer NGS panels, and optical genome mapping (OGM)
29. Abstract 6539: Application of optical genome mapping to identify samples with homologous recombination deficiency
30. Abstract 2227: Streamlined workflow for analyzing and reporting hematological malignancies in Bionano VIATM software
31. Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing
32. CHD8 intragenic deletion associated with autism spectrum disorder
33. Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report
34. 91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia
35. 33. Optical Genome Mapping identifies additional cytogenetic abnormalities in patients with hematologic malignancies
36. Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement
37. Genetic Predisposition to Neurological Complications in Patients with COVID-19
38. Genotoxic and mutagenic potential of 7-methylxanthine: an investigational drug molecule for the treatment of myopia
39. P513: Bionano NxClinical software enables comprehensive analysis and interpretation of all classes of genomic variants in rare disease constitutional testing applications
40. P480: Validation of optical genome mapping as a laboratory-developed diagnostic test for facioscapulohumeral muscular dystrophy type 1
41. Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies
42. Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms
43. 36. Clinical utility of copy number alteration analysis in the evaluation of Melanocytic Lesions for diagnosis and prognosis
44. 109. Use of Bionano Optical Genome Mapping in a multi-platform structural variation analysis of a cancer reference cell line
45. 138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies
46. 66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types
47. 42. Optical genome mapping and 523-gene sequencing panel for comprehensive genomic evaluation of myeloid cancers
48. 113. Optical Genome Mapping: Clinical validation and diagnostic utility for cytogenomic analysis of Hematological Neoplasms
49. 114. Comparison of optical genome mapping, CMA, and 523-gene NGS panel for Homologous Recombination Deficiency calculation
50. Abstract 2931: Optical genome mapping workflow for identification and annotation of variants in hematological diseases
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