Poster Session Filter By Category SHOW ALL Hematologic Malignancies Solid Tumors Genomic Resources for Variant Curation and Standardization Technical Topics Bioinformatics and Artificial Intelligence Constitutional Disorders Challenges in Genomic Testing Other Oncology and Constitutional Topics Search for: 11. The complex nature of variant interactions in cancer requires updates to variant interpretation resources 3 - Genomic Resources for Variant Curation and Standardizationread more 12. Expanding clinical actionability in individual patient profiles with the Molecular Oncology Almanac 5 - Bioinformatics and Artificial Intelligenceread more 13. Implementation of new ClinGen/CGC/VICC recommendations for classification of oncogenicity of somatic variants using AI 4 - Technical Topicsread more 14. Providing More Answers for Patients with Supplemental RNA Analysis 4 - Technical Topicsread more 15. ClinGen Somatic Cancer expert curation panel for FGFR genes in Genitourinary Cancer 5 - Bioinformatics and Artificial Intelligenceread more 27. Review and comparison of the Oncomine Myeloid Assay GX v2 on Genexus System 3 - Genomic Resources for Variant Curation and Standardizationread more 28. Detection of small mutations, copy number alterations and structural variations from targeted cfDNA sequencing in cancer 5 - Bioinformatics and Artificial Intelligenceread more 29. Tools for functional genomics dataset visualization and analysis 5 - Bioinformatics and Artificial Intelligenceread more 30. Semi-automated approaches for digital pathology analyses standardize pathologic assessment of clinical melanoma biopsies 6 - Constitutional Disordersread more 31. Automated fluorescence in situ hybridization (FISH) imaging and analysis validation using BioView Duet-3 System 3 - Genomic Resources for Variant Curation and Standardizationread more 44. An international landscape of cancer NGS reporting practices 3 - Genomic Resources for Variant Curation and Standardizationread more 45. Deconstruction of pancreatic ductal adenocarcinoma identifies survival-associated tumor microenvironmental communities 3 - Genomic Resources for Variant Curation and Standardizationread more 46. Data driven refinement of gene signatures for enrichment analysis and cell state characterization 4 - Technical Topicsread more 47. A Symbolic Regression Approach to Hepatocellular Carcinoma Diagnosis Using Circulating Cell-Free DNA 4 - Technical Topicsread more 48. Refining the drug-gene interaction database for precision medicine 4 - Technical Topicsread more 51. Discerning cell types and states in spatial transcriptomics data using topic modelling 5 - Bioinformatics and Artificial Intelligenceread more 53. Clinical whole exome/whole transcriptome (WES/WTS) analysis detects copy number and structural rearrangements important 4 - Technical Topicsread more 54. CancerTrialMatch: A computational resource for the management of clinical trials at a precision oncology center 5 - Bioinformatics and Artificial Intelligenceread more 55. Epigenetic therapy-induced transposable element antigens in Glioblastoma 2 - Solid Tumorsread more 58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events. 6 - Constitutional Disordersread more 59. Inferring copy number events in Glioblastoma using spatial gene expression data 2 - Solid Tumorsread more 60. Panning for neoantigens to demonstrate feasibility of neoantigen vaccines in canine melanoma 2 - Solid Tumorsread more 61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma 4 - Technical Topicsread more 62. Molecular profile of patients with Acute Myeloid Leukemia at diagnosis 1 - Hematologic Malignanciesread more 63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene 1 - Hematologic Malignanciesread more 64. FAIR sharing of cancer GWAS data via the NHGRI-EBI GWAS catalog 3 - Genomic Resources for Variant Curation and Standardizationread more 65. AR/enhancer alterations in metastatic castrate-resistant prostate cancer patient plasma predicts worse overall survival 4 - Technical Topicsread more 66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types 2 - Solid Tumorsread more 67. Long noncoding RNAs encoding peptides in cancer 8 - Other Oncology and Constitutional Topicsread more 68. Integrative analysis of genomic and transcriptomic data using RegTools to identify splice-altering mutations within bulk 5 - Bioinformatics and Artificial Intelligenceread more 69. Integration of standards for variant oncogenicity into the CIViC data model 3 - Genomic Resources for Variant Curation and Standardizationread more 70. Assessment of circulating tumor DNA tumor mutational burden to define resistance in HR+ HER2- metastatic breast cancer 4 - Technical Topicsread more 72. Variant curation of BCR::ABL1-like B-lymphoblastic leukemia/lymphoma through expert panel consensus 3 - Genomic Resources for Variant Curation and Standardizationread more 73. Chromosomal microarray-based genomic profiling of T-cell Large Granular Lymphocyte Leukemia 1 - Hematologic Malignanciesread more 74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies 6 - Constitutional Disordersread more 75. Clinical implementation of a precision medicine consultation service 8 - Other Oncology and Constitutional Topicsread more 77. Copy number alterations are commonly seen in childhood brain tumors and may help predict survival 2 - Solid Tumorsread more 78. Identification of a non-productive KMT2A rearrangement in B-ALL with apparent concurrent ETV6::RUNX1 and KMT2A fusions 1 - Hematologic Malignanciesread more 79. Implications of fortuitous detection of JAK2 V617F mutations with solid tumor clinical sequencing 7 - Challenges in Genomic Testingread more 80. Evaluation of MYEOV expression in multiple myeloma patients with IGH::CCND1 rearrangement and chromosome 11 polysomy. 1 - Hematologic Malignanciesread more 81. Discrepancies in the detection of PML::RARA gene rearrangement by FISH using commonly used dual-color dual-fusion probes 1 - Hematologic Malignanciesread more 82. Enabling large scale precision oncology research with a new standard for genomic variants: OMOP Genomic 3 - Genomic Resources for Variant Curation and Standardizationread more 83. Quantum lattices for early cancer detection through machine learning 5 - Bioinformatics and Artificial Intelligenceread more 84. Benefits of integrating an open-source knowledgebase in a precision oncology workflow 8 - Other Oncology and Constitutional Topicsread more 85. Cell-type-specific genotypic interpretation in the human breast 5 - Bioinformatics and Artificial Intelligenceread more 86. Whole genome sequencing of mouse derived cell-free DNA to develop a NF1-MPNST-PDX liquid biopsy model 4 - Technical Topicsread more 87. Somatic mutation variant analysis in rural, resectable non-small cell lung carcinoma patients 2 - Solid Tumorsread more 88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakis 8 - Other Oncology and Constitutional Topicsread more 89. Identification of therapeutic combinations for immune checkpoint inhibitors (ICIs) using explanatory subgroup discovery 2 - Solid Tumorsread more 90. TERT promoter mutation detection by ddPCR in glial atypia 2 - Solid Tumorsread more 91. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias 4 - Technical Topicsread more 93. Surveying the genomic landscape of Mantle Cell Lymphoma 1 - Hematologic Malignanciesread more 92. Characterization of an ultra-high-risk uveal melanoma copy number subtype 2 - Solid Tumorsread more 94. Comparison of FISH to whole exome/whole transcriptome detection of relevant structural alterations in Multiple Myeloma 1 - Hematologic Malignanciesread more 97. The clinical implications of unbalanced CCND1::IGH rearrangement resulted from the 5’IGH deletion in multiple myeloma 1 - Hematologic Malignanciesread more 98. Utility and feasibility of Molecular Profiling of Circulating Tumor RNA (ctRNA) from FNA Supernatants 4 - Technical Topicsread more 99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden 2 - Solid Tumorsread more 100. Identification of unique subtypes of pediatric high-grade glioma by comparative tumor transcriptomics 8 - Other Oncology and Constitutional Topicsread more 101. Development of an analytical pipeline for Detecting fusions of clinical relevance in liver cancer 2 - Solid Tumorsread more 102. Elucidating the genomic landscape of Prostate Adenocarcinoma through whole genome and transcriptome sequencing 2 - Solid Tumorsread more 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 Standardizationread more 104. H3K27-altered diffuse midline gliomas with secondary driver molecular alterations 4 - Technical Topicsread more 105. Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid 1 - Hematologic Malignanciesread more 106. Genotype of Human Papilloma virus in Male Genital Warts in Korean men and review of literature 4 - Technical Topicsread more 107. Development of novel RT-PCR assay for detection of COVID-19 in the Post-Omicron Era 4 - Technical Topicsread more 108. A cancer genomics resource built on GA4GH standards 3 - Genomic Resources for Variant Curation and Standardizationread more 109. Use of Bionano Optical Genome Mapping in a multi-platform structural variation analysis of a cancer reference cell line 4 - Technical Topicsread more 110. Discovery and characterization of novel fusions in Pediatric B-Lymphoblastic Leukemia (B-ALL) 1 - Hematologic Malignanciesread more 111. pVACsplice: Predicting neoantigens from tumor-specific alternative splicing events derived from regulatory mutations 5 - Bioinformatics and Artificial Intelligenceread more 112. ClinGen Somatic Cancer Variant Interpretation (CVI) committee and the Somatic Cancer expert panel process 3 - Genomic Resources for Variant Curation and Standardizationread more 113. Optical Genome Mapping: Clinical validation and diagnostic utility for cytogenomic analysis of Hematological Neoplasms 4 - Technical Topicsread more 114. Comparison of optical genome mapping, CMA, and 523-gene NGS panel for Homologous Recombination Deficiency calculation 8 - Other Oncology and Constitutional Topicsread more 115. Standardized assessment of Oncogenicity and clinical significance of NTRK fusions 3 - Genomic Resources for Variant Curation and Standardizationread more 116. Integrating methylation profiling into adult brain tumor diagnostics – the Australian experience 2 - Solid Tumorsread more 117. Clinical lessons learned from Translational Molecular Profiling of Cancer and Somatic Disease 8 - Other Oncology and Constitutional Topicsread more 118. Single-cell RNA sequencing and co-occurring cellular state analysis of high-grade serous ovarian cancer 2 - Solid Tumorsread more 119. Concordance of integrated analysis approaches to measure HRD genomic instability 2 - Solid Tumorsread more 120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel 3 - Genomic Resources for Variant Curation and Standardizationread more 121. Single cell TCR sequencing identifies an enriched V(D)J repertoire in canine melanoma 2 - Solid Tumorsread more 122. Prostate cancer and other clinical features by polygenic risk score 8 - Other Oncology and Constitutional Topicsread more 123. Chromosomal microarray assists interpretation of cytogenetic abnormalities in hematopoietic malignancies 1 - Hematologic Malignanciesread more 124. Normalizing therapy concepts with TheraPy 3 - Genomic Resources for Variant Curation and Standardizationread more 125. Expect the unexpected? Microarray analyses of pediatric tumors 2 - Solid Tumorsread more 126. MECOM rearrangement by Pericentric Inversion 3 presents a diagnostic challenge 1 - Hematologic Malignanciesread more 127. Characterization of alternative transcription start and termination sites in glioblastoma 5 - Bioinformatics and Artificial Intelligenceread more 128. Clinical testing of mismatch repair in neoplasms using multiple laboratory methods 2 - Solid Tumorsread more 129. Standardization of cancer terminology in the Mondo Disease Ontology 3 - Genomic Resources for Variant Curation and Standardizationread more 130. The Myeloid Malignancy Variant Curation Expert Panel: Investigating RUNX1, GATA2, and DDX41 3 - Genomic Resources for Variant Curation and Standardizationread more 131. Clonal Hematopoiesis is associated with risk of Cardiovascular Disease in individuals with Human Immunodeficiency Virus 5 - Bioinformatics and Artificial Intelligenceread more 132. Variant analysis for exploration of cancer datasets on the Cancer Genomics Cloud, powered by Seven Bridges 3 - Genomic Resources for Variant Curation and Standardizationread more 133. Incidental finding of the 1st degree of parental relatedness in a newborn with JBS and homozygous UBR1 mutation 7 - Challenges in Genomic Testingread more 134. Novel fusions in aggressive infant sarcomas: Expanding the scope of ‘CIC-rearranged’ sarcoma without CIC rearrangement 2 - Solid Tumorsread more 135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures 5 - Bioinformatics and Artificial Intelligenceread more 136. Rare but recurrent translocations, Clustered Genomic Aberrations in Early T-cell Precursor Acute Lymphoblastic Leukemia 1 - Hematologic Malignanciesread more 137. Estimation of familial DNA contamination using Mendelian inconsistencies from next generation sequencing of trios 6 - Constitutional Disordersread more 138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies 1 - Hematologic Malignanciesread more 139. Feasibility of comprehensive whole genome profiling in hematological malignancies 1 - Hematologic Malignanciesread more
11. The complex nature of variant interactions in cancer requires updates to variant interpretation resources 3 - Genomic Resources for Variant Curation and Standardizationread more
12. Expanding clinical actionability in individual patient profiles with the Molecular Oncology Almanac 5 - Bioinformatics and Artificial Intelligenceread more
13. Implementation of new ClinGen/CGC/VICC recommendations for classification of oncogenicity of somatic variants using AI 4 - Technical Topicsread more
15. ClinGen Somatic Cancer expert curation panel for FGFR genes in Genitourinary Cancer 5 - Bioinformatics and Artificial Intelligenceread more
27. Review and comparison of the Oncomine Myeloid Assay GX v2 on Genexus System 3 - Genomic Resources for Variant Curation and Standardizationread more
28. Detection of small mutations, copy number alterations and structural variations from targeted cfDNA sequencing in cancer 5 - Bioinformatics and Artificial Intelligenceread more
29. Tools for functional genomics dataset visualization and analysis 5 - Bioinformatics and Artificial Intelligenceread more
30. Semi-automated approaches for digital pathology analyses standardize pathologic assessment of clinical melanoma biopsies 6 - Constitutional Disordersread more
31. Automated fluorescence in situ hybridization (FISH) imaging and analysis validation using BioView Duet-3 System 3 - Genomic Resources for Variant Curation and Standardizationread more
44. An international landscape of cancer NGS reporting practices 3 - Genomic Resources for Variant Curation and Standardizationread more
45. Deconstruction of pancreatic ductal adenocarcinoma identifies survival-associated tumor microenvironmental communities 3 - Genomic Resources for Variant Curation and Standardizationread more
46. Data driven refinement of gene signatures for enrichment analysis and cell state characterization 4 - Technical Topicsread more
47. A Symbolic Regression Approach to Hepatocellular Carcinoma Diagnosis Using Circulating Cell-Free DNA 4 - Technical Topicsread more
51. Discerning cell types and states in spatial transcriptomics data using topic modelling 5 - Bioinformatics and Artificial Intelligenceread more
53. Clinical whole exome/whole transcriptome (WES/WTS) analysis detects copy number and structural rearrangements important 4 - Technical Topicsread more
54. CancerTrialMatch: A computational resource for the management of clinical trials at a precision oncology center 5 - Bioinformatics and Artificial Intelligenceread more
55. Epigenetic therapy-induced transposable element antigens in Glioblastoma 2 - Solid Tumorsread more
58. Improving the molecular diagnosis of SBDS-related disorders by identifying rare gene conversion events. 6 - Constitutional Disordersread more
59. Inferring copy number events in Glioblastoma using spatial gene expression data 2 - Solid Tumorsread more
60. Panning for neoantigens to demonstrate feasibility of neoantigen vaccines in canine melanoma 2 - Solid Tumorsread more
61. Clinical whole exome/whole transcriptome analysis detects clinically relevant structural alterations in Multiple Myeloma 4 - Technical Topicsread more
62. Molecular profile of patients with Acute Myeloid Leukemia at diagnosis 1 - Hematologic Malignanciesread more
63. Comparative analysis of testing methods used for the detection of internal tandem duplications in the KMT2A/MLL gene 1 - Hematologic Malignanciesread more
64. FAIR sharing of cancer GWAS data via the NHGRI-EBI GWAS catalog 3 - Genomic Resources for Variant Curation and Standardizationread more
65. AR/enhancer alterations in metastatic castrate-resistant prostate cancer patient plasma predicts worse overall survival 4 - Technical Topicsread more
66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types 2 - Solid Tumorsread more
67. Long noncoding RNAs encoding peptides in cancer 8 - Other Oncology and Constitutional Topicsread more
68. Integrative analysis of genomic and transcriptomic data using RegTools to identify splice-altering mutations within bulk 5 - Bioinformatics and Artificial Intelligenceread more
69. Integration of standards for variant oncogenicity into the CIViC data model 3 - Genomic Resources for Variant Curation and Standardizationread more
70. Assessment of circulating tumor DNA tumor mutational burden to define resistance in HR+ HER2- metastatic breast cancer 4 - Technical Topicsread more
72. Variant curation of BCR::ABL1-like B-lymphoblastic leukemia/lymphoma through expert panel consensus 3 - Genomic Resources for Variant Curation and Standardizationread more
73. Chromosomal microarray-based genomic profiling of T-cell Large Granular Lymphocyte Leukemia 1 - Hematologic Malignanciesread more
74. Genetic and functional characterization of complex chromosomal rearrangements in a family with multisystem anomalies 6 - Constitutional Disordersread more
75. Clinical implementation of a precision medicine consultation service 8 - Other Oncology and Constitutional Topicsread more
77. Copy number alterations are commonly seen in childhood brain tumors and may help predict survival 2 - Solid Tumorsread more
78. Identification of a non-productive KMT2A rearrangement in B-ALL with apparent concurrent ETV6::RUNX1 and KMT2A fusions 1 - Hematologic Malignanciesread more
79. Implications of fortuitous detection of JAK2 V617F mutations with solid tumor clinical sequencing 7 - Challenges in Genomic Testingread more
80. Evaluation of MYEOV expression in multiple myeloma patients with IGH::CCND1 rearrangement and chromosome 11 polysomy. 1 - Hematologic Malignanciesread more
81. Discrepancies in the detection of PML::RARA gene rearrangement by FISH using commonly used dual-color dual-fusion probes 1 - Hematologic Malignanciesread more
82. Enabling large scale precision oncology research with a new standard for genomic variants: OMOP Genomic 3 - Genomic Resources for Variant Curation and Standardizationread more
83. Quantum lattices for early cancer detection through machine learning 5 - Bioinformatics and Artificial Intelligenceread more
84. Benefits of integrating an open-source knowledgebase in a precision oncology workflow 8 - Other Oncology and Constitutional Topicsread more
85. Cell-type-specific genotypic interpretation in the human breast 5 - Bioinformatics and Artificial Intelligenceread more
86. Whole genome sequencing of mouse derived cell-free DNA to develop a NF1-MPNST-PDX liquid biopsy model 4 - Technical Topicsread more
87. Somatic mutation variant analysis in rural, resectable non-small cell lung carcinoma patients 2 - Solid Tumorsread more
88. Significant association of BRCA1, BRCA2 and TP53 gene polymorphisms with breast cancer risk in Khyber Pakhtunkhwa, Pakis 8 - Other Oncology and Constitutional Topicsread more
89. Identification of therapeutic combinations for immune checkpoint inhibitors (ICIs) using explanatory subgroup discovery 2 - Solid Tumorsread more
91. Reducing diagnostic FISH turn-around-time: A rapid pipeline for BCR::ABL1 and PML::RARA suspected leukemias 4 - Technical Topicsread more
92. Characterization of an ultra-high-risk uveal melanoma copy number subtype 2 - Solid Tumorsread more
94. Comparison of FISH to whole exome/whole transcriptome detection of relevant structural alterations in Multiple Myeloma 1 - Hematologic Malignanciesread more
97. The clinical implications of unbalanced CCND1::IGH rearrangement resulted from the 5’IGH deletion in multiple myeloma 1 - Hematologic Malignanciesread more
98. Utility and feasibility of Molecular Profiling of Circulating Tumor RNA (ctRNA) from FNA Supernatants 4 - Technical Topicsread more
99. Histopathologic Correlation Somatic Variants in Non Small Cell Lung Cancer with High Tumor Mutation Burden 2 - Solid Tumorsread more
100. Identification of unique subtypes of pediatric high-grade glioma by comparative tumor transcriptomics 8 - Other Oncology and Constitutional Topicsread more
101. Development of an analytical pipeline for Detecting fusions of clinical relevance in liver cancer 2 - Solid Tumorsread more
102. Elucidating the genomic landscape of Prostate Adenocarcinoma through whole genome and transcriptome sequencing 2 - Solid Tumorsread more
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 Standardizationread more
104. H3K27-altered diffuse midline gliomas with secondary driver molecular alterations 4 - Technical Topicsread more
105. Clinical whole-genome sequencing identifies NSD3 as the correct fusion partner of NUP98 in a patient with acute myeloid 1 - Hematologic Malignanciesread more
106. Genotype of Human Papilloma virus in Male Genital Warts in Korean men and review of literature 4 - Technical Topicsread more
107. Development of novel RT-PCR assay for detection of COVID-19 in the Post-Omicron Era 4 - Technical Topicsread more
108. A cancer genomics resource built on GA4GH standards 3 - Genomic Resources for Variant Curation and Standardizationread more
109. Use of Bionano Optical Genome Mapping in a multi-platform structural variation analysis of a cancer reference cell line 4 - Technical Topicsread more
110. Discovery and characterization of novel fusions in Pediatric B-Lymphoblastic Leukemia (B-ALL) 1 - Hematologic Malignanciesread more
111. pVACsplice: Predicting neoantigens from tumor-specific alternative splicing events derived from regulatory mutations 5 - Bioinformatics and Artificial Intelligenceread more
112. ClinGen Somatic Cancer Variant Interpretation (CVI) committee and the Somatic Cancer expert panel process 3 - Genomic Resources for Variant Curation and Standardizationread more
113. Optical Genome Mapping: Clinical validation and diagnostic utility for cytogenomic analysis of Hematological Neoplasms 4 - Technical Topicsread more
114. Comparison of optical genome mapping, CMA, and 523-gene NGS panel for Homologous Recombination Deficiency calculation 8 - Other Oncology and Constitutional Topicsread more
115. Standardized assessment of Oncogenicity and clinical significance of NTRK fusions 3 - Genomic Resources for Variant Curation and Standardizationread more
116. Integrating methylation profiling into adult brain tumor diagnostics – the Australian experience 2 - Solid Tumorsread more
117. Clinical lessons learned from Translational Molecular Profiling of Cancer and Somatic Disease 8 - Other Oncology and Constitutional Topicsread more
118. Single-cell RNA sequencing and co-occurring cellular state analysis of high-grade serous ovarian cancer 2 - Solid Tumorsread more
119. Concordance of integrated analysis approaches to measure HRD genomic instability 2 - Solid Tumorsread more
120. Expert curation of FLT3 variants by the ClinGen FLT3 Somatic Cancer Variant Curation expert panel 3 - Genomic Resources for Variant Curation and Standardizationread more
121. Single cell TCR sequencing identifies an enriched V(D)J repertoire in canine melanoma 2 - Solid Tumorsread more
122. Prostate cancer and other clinical features by polygenic risk score 8 - Other Oncology and Constitutional Topicsread more
123. Chromosomal microarray assists interpretation of cytogenetic abnormalities in hematopoietic malignancies 1 - Hematologic Malignanciesread more
124. Normalizing therapy concepts with TheraPy 3 - Genomic Resources for Variant Curation and Standardizationread more
126. MECOM rearrangement by Pericentric Inversion 3 presents a diagnostic challenge 1 - Hematologic Malignanciesread more
127. Characterization of alternative transcription start and termination sites in glioblastoma 5 - Bioinformatics and Artificial Intelligenceread more
128. Clinical testing of mismatch repair in neoplasms using multiple laboratory methods 2 - Solid Tumorsread more
129. Standardization of cancer terminology in the Mondo Disease Ontology 3 - Genomic Resources for Variant Curation and Standardizationread more
130. The Myeloid Malignancy Variant Curation Expert Panel: Investigating RUNX1, GATA2, and DDX41 3 - Genomic Resources for Variant Curation and Standardizationread more
131. Clonal Hematopoiesis is associated with risk of Cardiovascular Disease in individuals with Human Immunodeficiency Virus 5 - Bioinformatics and Artificial Intelligenceread more
132. Variant analysis for exploration of cancer datasets on the Cancer Genomics Cloud, powered by Seven Bridges 3 - Genomic Resources for Variant Curation and Standardizationread more
133. Incidental finding of the 1st degree of parental relatedness in a newborn with JBS and homozygous UBR1 mutation 7 - Challenges in Genomic Testingread more
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of ‘CIC-rearranged’ sarcoma without CIC rearrangement 2 - Solid Tumorsread more
135. Tumor deconvolution using comprehensive single-cell RNA sequencing cell type signatures 5 - Bioinformatics and Artificial Intelligenceread more
136. Rare but recurrent translocations, Clustered Genomic Aberrations in Early T-cell Precursor Acute Lymphoblastic Leukemia 1 - Hematologic Malignanciesread more
137. Estimation of familial DNA contamination using Mendelian inconsistencies from next generation sequencing of trios 6 - Constitutional Disordersread more
138. Optical Genome Mapping workflow for identification and analysis of variants in Hematological Malignancies 1 - Hematologic Malignanciesread more
139. Feasibility of comprehensive whole genome profiling in hematological malignancies 1 - Hematologic Malignanciesread more