Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

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4. A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2
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6. Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification
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9. Identification of pathogenic variant enriched regions across genes and gene families
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10. Multiplex, multimodal mapping of variant effects in secreted proteins
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11. Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects
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12. UNCOVERseq enables sensitive and controlled gene editing off-target nomination across CRISPR-Cas modalities and systems
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13. Landscapes of missense variant impact for human superoxide dismutase 1
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14. Comprehensive evaluation of ACMG/AMP-based variant classification tools
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15. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines
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16. Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
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17. Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anesthetics
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19. Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53
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20. Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk
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21. MaveMD: a functional data resource for genomic medicine
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23. Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
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24. ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
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25. An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database
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26. Tracking updates in clinical databases increases efficiency for variant reanalysis
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28. Genetische Diagnostik autoinflammatorischer Erkrankungen
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29. Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS
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31. Erdafitinib for tumors with FGFR3 mutation: A promising targeted therapy
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32. Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
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33. Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria
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34. Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression
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35. A scalable approach to resolving variants of uncertain significance
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36. The global prevalence and genetic spectrum of primary carnitine deficiency
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37. A clinico-genomic prognostic model for primary myelodysplastic neoplasm in Asia
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38. Validation structures for sequence variants of uncertain significance in hereditary cancer
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39. Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines
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40. Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis
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42. Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism
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43. HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline
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44. Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions
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45. An all-encompassing variant classification system proposed
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46. Investigation of discordant sibling pairs from hereditary breast cancer families and analysis of a rare PMS1 variant
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47. VPMBench: a test bench for variant prioritization methods
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48. The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia
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49. Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis
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50. Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene
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51. Evaluate the Prognosis of MYC/TP53 Comutation in Chinese Patients with EGFR-Positive Advanced NSCLC Using Next-Generation Sequencing: A Retrospective Study
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52. Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays
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53. Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy
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54. diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype
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55. Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
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56. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
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57. A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes
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58. A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation
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59. Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells
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60. IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders
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63. A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review
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64. Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders
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69. Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis
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70. Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification
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71. Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification
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72. Revisiting penetrance in an era of genomic screening
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75. Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome
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80. Human Genetics of Cardiac Arrhythmias
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81. Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance
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89. Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
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93. The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification
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94. A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?
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95. Identification and Characterization of Rare Pathogenic Gene tic Variants Associated with Breast Cancer Susceptibility in 1000 Genome and gnomAD Population
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96. Calibration of in-frame indel variant effect predictors for clinical variant classification
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97. VarClaMM: A reference meta-model to understand DNA variant classification
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98. Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa
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99. High-throughput Sequencing in the Diagnosis of Inherited Bleeding and Clotting Disorders
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100. Whole-exome sequencing in pediatric patients with glomerulonephritis
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