43 results on '"Chaubey, Alka"'
Search Results
2. 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
3. P839: A curated research catalogue of structural variation detected by optical genome mapping
4. P746: Genome wide, high-throughput, high-resolution structural variation detection at low variant allele fraction for oncology samples
5. P573: Genome-wide short tandem repeat expansion screening using optical genome mapping*
6. Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report
7. 91. Atypical BCR::ABL1 rearrangements identified by optical genome mapping in patients with chronic myeloid leukemia
8. 75. Novel complex translocation involving PDGFRA::PRKG2, in a myeloid neoplasm with basophilia sample by OGM
9. 47. Optical genome mapping in hematological malignancy: Clinical outcomes in a 2-year follow-up retrospective study
10. 33. Optical Genome Mapping identifies additional cytogenetic abnormalities in patients with hematologic malignancies
11. 28. Analytical validation of an optical genome mapping assay for structural variant detection in hematologic malignancies
12. 3. Application of optical genome mapping to identify samples with homologous recombination deficiency
13. P513: Bionano NxClinical software enables comprehensive analysis and interpretation of all classes of genomic variants in rare disease constitutional testing applications
14. P480: Validation of optical genome mapping as a laboratory-developed diagnostic test for facioscapulohumeral muscular dystrophy type 1
15. 138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies
16. 114. Comparison of optical genome mapping, CMA, and 523-gene NGS panel for Homologous Recombination Deficiency calculation
17. 113. Optical Genome Mapping: Clinical validation and diagnostic utility for cytogenomic analysis of Hematological Neoplasms
18. 109. Use of Bionano Optical Genome Mapping in a multi-platform structural variation analysis of a cancer reference cell line
19. 66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types
20. 42. Optical genome mapping and 523-gene sequencing panel for comprehensive genomic evaluation of myeloid cancers
21. 36. Clinical utility of copy number alteration analysis in the evaluation of Melanocytic Lesions for diagnosis and prognosis
22. 5. Comparative benchmarking of optical genome mapping to chromosomal microarray reveals high technological concordance in CNV identification and additional structural variant refinement
23. 9. Optical genome mapping workflow for identification and annotation of variants in hematological malignancy
24. 7. Optical genome mapping for prenatal diagnostic testing
25. 52. Optical genome mapping and SNP microarray: integrated workflow for optimizing analysis of products of conception
26. 32. Clinical utility and feasibility of adopting optical genome mapping for chromosomal characterization of solid tumors
27. 13. Next-generation cytogenetics: Proposal for a cost-effective approach for comprehensive testing of prenatal cases
28. 45. Next-generation cytogenomic characterization of two complex prenatal cases by Saphyr's genome optical mapping
29. 23. Incidental findings on XON array: Our experience over the last two years
30. 49. Whole genome optical mapping: A high-resolution technology for cytogenetic analysis of hematological malignancies (HM)
31. 50. Whole genome optical mapping (WGOM) characterization of a complex case of myelodysplastic syndrome (MDS)
32. 48. Utility of whole genome optical mapping (WGOM) in cytogenetic analysis of solid tumors and hematologic malignancies (HM)
33. 47. Serendipitous identification of meiotic crossover events in struma ovarii tumors by whole genome SNP microarray analysis
34. 20. Two cases of acute myelogenous leukemia with positive FLT3- internal tandem duplication (ITD): Follow up and enrolment in clinical trials
35. 15. A validation study of copy number variant (CNVs) detection to replace constitutional microarray from low resolution whole genome sequencing data
36. 3. Unusual case of mosaic Robertsonian Down syndrome with three cell lines and review of history of Robertsonian translocations at Greenwood Genetic Center
37. 47 - Utility of Whole Genome SNP Microarray and Targeted Somatic Mutations in Evaluation of FFPE (Formalin Fixed Paraffin Embedded) Surgical Oncology Specimens
38. 18 - CGC Working Group Recommendations for CLL: Utility of Molecular Technologies Such as Microarrays and NGS for Routine Diagnostic Use
39. 13 - Utility of a Comprehensive Targeted DNA/RNA Panel (170 Genes) on a Next Generation Sequencing (NGS) Platform in Evaluation of Malignancies
40. 38 - Impact of SNP CMA on Patient Management in 3338 Extensively Followed Individuals at the Greenwood Genetic Center
41. 5 - Utility of Whole Genome SNP Microarray and Targeted Somatic Mutations in Evaluation of Melanoma, Histologic Mimics of Melanoma, and Glioblastoma
42. 31 - Microarray and Next Generation Sequencing: Complementary Technologies for Diagnosing Autosomal Recessive Disorders
43. 24 - Four Generation Family With a Complex Insertion of 16q in 4p
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