POSTERSAccurate detection of copy-number changes in the highly conserved regions of PMS2 using NGS Attitudes regarding personal genomic sequencing among healthy early adopters: Findings from the PeopleSeq Consortium Creating a medically actionable genetic screening panel for healthy individuals Evaluating the strength of evidence for gene-condition relationships: impact on multi-gene panel testing design Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome (also published in npj Genomics Medicine) Glycine missense variants in the COL3A1 triple helix domain: assessing functional domain data during clinical variant interpretation Mammalian species conservation data and the implication for clinical variant classification Molecular follow-up of a newborn screening positive case of medium-chain acyl–coenzyme A dehydrogenase deficiency identified two ACADM variants: Are they clinically pathogenic? “Phenotypes of distinction”: When and how to integrate unique phenotypic information into variant interpretation PseudoSlayer: Clinical-grade variant identification within segmental duplications using NGS data “SMRTer Confirmation”: Scalable clinical read-through variant confirmation using the Pacific Biosciences SMRT® Sequencing platform The spectrum of technically challenging pathogenic variants in patients presents new requirements for genetic test development and validation Variant classifications are highly concordant in ClinVar but with variability in genes from different disease areas What do public databases really tell us about classifications of variants in BRCA1 and BRCA2?
POSTERSMammalian species conservation data and the implications for clinical variant classification Novel large rearrangement of RAD51D in an ovarian and breast cancer family Inherited cardiomyopathies in the pediatric population: what molecular testing reveals
presentationsBioinformatics for genetic counselors, version 2.0 Creating a medically actionable genetic screening panel for healthy individuals A novel approach to lab-based clinical genetic counseling Hereditary genetic testing: current and future challenges
posterCopy number variation in clinical tests for inherited cardiomyopathies and arrhythmias
presentationWhat have public databases taught us about variant classification?
postersVariant classifications for BRCA1 and BRCA2 are substantially concordant across major clinical testing laboratories The expanding phenotype of PALB2-related cancer: clinical presentations of 144 identified carriers
presentationMosaic genetic variants in hereditary germline genetic testing: the expected and the unexpected
posterClinical presentation and management considerations for 77 breast cancer patients with germline PALB2 mutations
posterClinical actionability of panel tests for genes in the NCCN Guidelines for Hereditary Breast and Ovarian Cancer Clinical presentations of 111 patients with germline PALB2 mutations: Looking beyond breast and ovarian cancer
posterPreparing for the unexpected: Panel-based testing of ovarian cancer patients reveals actionable variants in non-canonical genes
postersClinical actionability of non-BRCA1/2 mutations uncovered in multigene tests for hereditary breast cancer Variant classifications for BRCA1 and BRCA2 are highly concordant across major clinical testing laboratories Clinical presentation and management considerations for 68 breast cancer patients with germline PALB2 mutations
postersAllele frequency distribution of pathogenic sequence variants in ExAC and the implications for clinical genetic testing Expanding phenotypes of cancer predisposition genes: CDKN2A Detection of novel Alu insertions by next-generation sequencing of hereditary cancer genes Challenges of content expansion with panel testing: incorporating informatics into the clinical report Rare disease diagnosis obstacles: patient perspectives and physician findings To include or not to include: RASopathy genes in cardiomyopathy genetic testing To confirm or not to confirm, that is the question: a rigorous approach to evaluating the importance of Sanger confirmation of clinical NGS findings
presentationDon't believe everything you hear: Variant classifications for BRCA1 and BRCA2 are highly concordant across major clinical testing laboratories
postersAn opportunity or dilemma? Customizable panel tests and clinician ordering behavior Establishing and evaluating a framework for describing variant evidence in clinical genomic reports Sherloc- Evaluation of a score-based implementation of the AMP-ACMG ISV guidelines in a scalable genetic diagnostic laboratory
PresentationsAnalytic validation standards for NGS assays and new reference materials needed A rigorous approach to evaluating the importance of Sanger Confirmation of NGS findings
postersClinical actionability of multigene tests for hereditary breast and ovarian cancer Integration of the ACMG ISV guidelines into clinical variant analysis and interpretation processes- A model for diagnostic standardization Moving beyond the 1%- incorporating the Exome Aggregation Consortium (ExAC) data into variant interpretation and classification To confirm or not confirm, that is the question: A rigorous approach to evaluating the importance of sanger confirmation of clinical NGS findings Understanding psychiatrists’ perceptions surrounding psychiatric genetics and genetic counseling services
PresentationsFinding just right- Balancing payer and provider goals for hereditary genetic testing Next generation sequencing- Challenges and strategies in testing patients with circulating hematopoietic malignancies Validation of clinical genetic tests - or – How to stop worrying and love the data!