Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data.

[1]  Danielle K. Manning,et al.  Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results. , 2021, European journal of medical genetics.

[2]  Danielle K. Manning,et al.  Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report , 2020, The American journal of case reports.

[3]  L. Macconaill,et al.  Validation of OncoPanel: A Targeted Next-Generation Sequencing Assay for the Detection of Somatic Variants in Cancer. , 2017, Archives of pathology & laboratory medicine.

[4]  Marian Harris,et al.  Institutional implementation of clinical tumor profiling on an unselected cancer population. , 2016, JCI insight.

[5]  Yuya Kobayashi,et al.  Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. , 2015, JAMA oncology.

[6]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[7]  W. Hahn,et al.  BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers , 2014, Nucleic acids research.

[8]  Yuya Kobayashi,et al.  Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. , 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[9]  M. Wigler,et al.  Circular binary segmentation for the analysis of array-based DNA copy number data. , 2004, Biostatistics.

[10]  AACR Project GENIE: Powering Precision Medicine through an International Consortium. , 2017, Cancer discovery.

[11]  Nikhil Wagle,et al.  High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. , 2012, Cancer discovery.