Poster Session

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Hematologic Malignancies

Genomic Resources for Variant Curation and Standardization

Technical Topics

Bioinformatics and Artificial Intelligence

Constitutional Disorders

Challenges in Genomic Testing

Other Oncology and Constitutional Topics

11. The complex nature of variant interactions in cancer requires updates to variant interpretation resources

3 - Genomic Resources for Variant Curation and Standardization

12. Expanding clinical actionability in individual patient profiles with the Molecular Oncology Almanac

5 - Bioinformatics and Artificial Intelligence

13. Implementation of new ClinGen/CGC/VICC recommendations for classification of oncogenicity of somatic variants using AI

4 - Technical Topics

14. Providing More Answers for Patients with Supplemental RNA Analysis

4 - Technical Topics

15. ClinGen Somatic Cancer expert curation panel for FGFR genes in Genitourinary Cancer

5 - Bioinformatics and Artificial Intelligence

27. Review and comparison of the Oncomine Myeloid Assay GX v2 on Genexus System

3 - Genomic Resources for Variant Curation and Standardization

28. Detection of small mutations, copy number alterations and structural variations from targeted cfDNA sequencing in cancer

5 - Bioinformatics and Artificial Intelligence

29. Tools for functional genomics dataset visualization and analysis

5 - Bioinformatics and Artificial Intelligence

30. Semi-automated approaches for digital pathology analyses standardize pathologic assessment of clinical melanoma biopsies

6 - Constitutional Disorders

31. Automated fluorescence in situ hybridization (FISH) imaging and analysis validation using BioView Duet-3 System

3 - Genomic Resources for Variant Curation and Standardization

44. An international landscape of cancer NGS reporting practices

3 - Genomic Resources for Variant Curation and Standardization

45. Deconstruction of pancreatic ductal adenocarcinoma identifies survival-associated tumor microenvironmental communities

3 - Genomic Resources for Variant Curation and Standardization

46. Data driven refinement of gene signatures for enrichment analysis and cell state characterization

4 - Technical Topics

47. A Symbolic Regression Approach to Hepatocellular Carcinoma Diagnosis Using Circulating Cell-Free DNA

4 - Technical Topics

48. Refining the drug-gene interaction database for precision medicine

4 - Technical Topics

51. Discerning cell types and states in spatial transcriptomics data using topic modelling

5 - Bioinformatics and Artificial Intelligence

53. Clinical whole exome/whole transcriptome (WES/WTS) analysis detects copy number and structural rearrangements important

4 - Technical Topics

54. CancerTrialMatch: A computational resource for the management of clinical trials at a precision oncology center

5 - Bioinformatics and Artificial Intelligence

55. Epigenetic therapy-induced transposable element antigens in Glioblastoma

2 - Solid Tumors

58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events.

6 - Constitutional Disorders

59. Inferring copy number events in Glioblastoma using spatial gene expression data

2 - Solid Tumors

60. Panning for neoantigens to demonstrate feasibility of neoantigen vaccines in canine melanoma

2 - Solid Tumors

61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma

4 - Technical Topics

62. Molecular profile of patients with Acute Myeloid Leukemia at diagnosis

1 - Hematologic Malignancies

63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene

1 - Hematologic Malignancies

64. FAIR sharing of cancer GWAS data via the NHGRI-EBI GWAS catalog

3 - Genomic Resources for Variant Curation and Standardization

65. AR/enhancer alterations in metastatic castrate-resistant prostate cancer patient plasma predicts worse overall survival

4 - Technical Topics

66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types

2 - Solid Tumors

67. Long noncoding RNAs encoding peptides in cancer

8 - Other Oncology and Constitutional Topics

68. Integrative analysis of genomic and transcriptomic data using RegTools to identify splice-altering mutations within bulk

5 - Bioinformatics and Artificial Intelligence

69. Integration of standards for variant oncogenicity into the CIViC data model

3 - Genomic Resources for Variant Curation and Standardization

70. Assessment of circulating tumor DNA tumor mutational burden to define resistance in HR+ HER2- metastatic breast cancer

4 - Technical Topics

72. Variant curation of BCR::ABL1-like B-lymphoblastic leukemia/lymphoma through expert panel consensus

3 - Genomic Resources for Variant Curation and Standardization

73. Chromosomal microarray-based genomic profiling of T-cell Large Granular Lymphocyte Leukemia

1 - Hematologic Malignancies

74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies

6 - Constitutional Disorders

75. Clinical implementation of a precision medicine consultation service

8 - Other Oncology and Constitutional Topics

77. Copy number alterations are commonly seen in childhood brain tumors and may help predict survival

2 - Solid Tumors

78. Identification of a non-productive KMT2A rearrangement in B-ALL with apparent concurrent ETV6::RUNX1 and KMT2A fusions

1 - Hematologic Malignancies

79. Implications of fortuitous detection of JAK2 V617F mutations with solid tumor clinical sequencing

7 - Challenges in Genomic Testing

80. Evaluation of MYEOV expression in multiple myeloma patients with IGH::CCND1 rearrangement and chromosome 11 polysomy.

1 - Hematologic Malignancies

81. Discrepancies in the detection of PML::RARA gene rearrangement by FISH using commonly used dual-color dual-fusion probes

1 - Hematologic Malignancies

82. Enabling large scale precision oncology research with a new standard for genomic variants: OMOP Genomic

3 - Genomic Resources for Variant Curation and Standardization

83. Quantum lattices for early cancer detection through machine learning

5 - Bioinformatics and Artificial Intelligence

84. Benefits of integrating an open-source knowledgebase in a precision oncology workflow

8 - Other Oncology and Constitutional Topics

85. Cell-type-specific genotypic interpretation in the human breast

5 - Bioinformatics and Artificial Intelligence

86. Whole genome sequencing of mouse derived cell-free DNA to develop a NF1-MPNST-PDX liquid biopsy model

4 - Technical Topics

87. Somatic mutation variant analysis in rural, resectable non-small cell lung carcinoma patients

2 - Solid Tumors

88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakis

8 - Other Oncology and Constitutional Topics

89. Identification of therapeutic combinations for immune checkpoint inhibitors (ICIs) using explanatory subgroup discovery

2 - Solid Tumors

90. TERT promoter mutation detection by ddPCR in glial atypia

2 - Solid Tumors

91. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias

4 - Technical Topics

93. Surveying the genomic landscape of Mantle Cell Lymphoma

1 - Hematologic Malignancies

92. Characterization of an ultra-high-risk uveal melanoma copy number subtype

2 - Solid Tumors

94. Comparison of FISH to whole exome/whole transcriptome detection of relevant structural alterations in Multiple Myeloma

1 - Hematologic Malignancies

97. The clinical implications of unbalanced CCND1::IGH rearrangement resulted from the 5’IGH deletion in multiple myeloma

1 - Hematologic Malignancies

98. Utility and feasibility of Molecular Profiling of Circulating Tumor RNA (ctRNA) from FNA Supernatants

4 - Technical Topics

99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden

2 - Solid Tumors

100. Identification of unique subtypes of pediatric high-grade glioma by comparative tumor transcriptomics

8 - Other Oncology and Constitutional Topics

101. Development of an analytical pipeline for Detecting fusions of clinical relevance in liver cancer

2 - Solid Tumors

102. Elucidating the genomic landscape of Prostate Adenocarcinoma through whole genome and transcriptome sequencing

2 - Solid Tumors

103. Formation of a ClinGen Variant Curation Expert Panel (VCEP) dedicated to Oncohistone H3 Variants in Pediatric Gliomas

3 - Genomic Resources for Variant Curation and Standardization

104. H3K27-altered diffuse midline gliomas with secondary driver molecular alterations

4 - Technical Topics

105. Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid

1 - Hematologic Malignancies

106. Genotype of Human Papilloma virus in Male Genital Warts in Korean men and review of literature

4 - Technical Topics

107. Development of novel RT-PCR assay for detection of COVID-19 in the Post-Omicron Era

4 - Technical Topics

108. A cancer genomics resource built on GA4GH standards

3 - Genomic Resources for Variant Curation and Standardization

109. Use of Bionano Optical Genome Mapping in a multi-platform structural variation analysis of a cancer reference cell line

4 - Technical Topics

110. Discovery and characterization of novel fusions in Pediatric B-Lymphoblastic Leukemia (B-ALL)

1 - Hematologic Malignancies

111. pVACsplice: Predicting neoantigens from tumor-specific alternative splicing events derived from regulatory mutations

5 - Bioinformatics and Artificial Intelligence

112. ClinGen Somatic Cancer Variant Interpretation (CVI) committee and the Somatic Cancer expert panel process

3 - Genomic Resources for Variant Curation and Standardization

113. Optical Genome Mapping: Clinical validation and diagnostic utility for cytogenomic analysis of Hematological Neoplasms

4 - Technical Topics

114. Comparison of optical genome mapping, CMA, and 523-gene NGS panel for Homologous Recombination Deficiency calculation

8 - Other Oncology and Constitutional Topics

115. Standardized assessment of Oncogenicity and clinical significance of NTRK fusions

3 - Genomic Resources for Variant Curation and Standardization

116. Integrating methylation profiling into adult brain tumor diagnostics – the Australian experience

2 - Solid Tumors

117. Clinical lessons learned from Translational Molecular Profiling of Cancer and Somatic Disease

8 - Other Oncology and Constitutional Topics

118. Single-cell RNA sequencing and co-occurring cellular state analysis of high-grade serous ovarian cancer

2 - Solid Tumors

119. Concordance of integrated analysis approaches to measure HRD genomic instability

2 - Solid Tumors

120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel

3 - Genomic Resources for Variant Curation and Standardization

121. Single cell TCR sequencing identifies an enriched V(D)J repertoire in canine melanoma

2 - Solid Tumors

122. Prostate cancer and other clinical features by polygenic risk score

8 - Other Oncology and Constitutional Topics

123. Chromosomal microarray assists interpretation of cytogenetic abnormalities in hematopoietic malignancies

1 - Hematologic Malignancies

124. Normalizing therapy concepts with TheraPy

3 - Genomic Resources for Variant Curation and Standardization

125. Expect the unexpected? Microarray analyses of pediatric tumors

2 - Solid Tumors

126. MECOM rearrangement by Pericentric Inversion 3 presents a diagnostic challenge

1 - Hematologic Malignancies

127. Characterization of alternative transcription start and termination sites in glioblastoma

5 - Bioinformatics and Artificial Intelligence

128. Clinical testing of mismatch repair in neoplasms using multiple laboratory methods

2 - Solid Tumors

129. Standardization of cancer terminology in the Mondo Disease Ontology

3 - Genomic Resources for Variant Curation and Standardization

130. The Myeloid Malignancy Variant Curation Expert Panel: Investigating RUNX1, GATA2, and DDX41

3 - Genomic Resources for Variant Curation and Standardization

131. Clonal Hematopoiesis is associated with risk of Cardiovascular Disease in individuals with Human Immunodeficiency Virus

5 - Bioinformatics and Artificial Intelligence

132. Variant analysis for exploration of cancer datasets on the Cancer Genomics Cloud, powered by Seven Bridges

3 - Genomic Resources for Variant Curation and Standardization

133. Incidental finding of the 1st degree of parental relatedness in a newborn with JBS and homozygous UBR1 mutation

7 - Challenges in Genomic Testing

134. Novel fusions in aggressive infant sarcomas: Expanding the scope of ‘CIC-rearranged’ sarcoma without CIC rearrangement

2 - Solid Tumors

135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures

5 - Bioinformatics and Artificial Intelligence

136. Rare but recurrent translocations, Clustered Genomic Aberrations in Early T-cell Precursor Acute Lymphoblastic Leukemia

1 - Hematologic Malignancies

137. Estimation of familial DNA contamination using Mendelian inconsistencies from next generation sequencing of trios

6 - Constitutional Disorders

138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies

1 - Hematologic Malignancies

139. Feasibility of comprehensive whole genome profiling in hematological malignancies

1 - Hematologic Malignancies