Inherited Conditions

Thursday, November 1, 2018
SCIENTIFIC INFORMATION
7:00am - 8:00am	EARLY BIRD SESSIONS Case Studies in Genetics & Informatics Occurrence of Medulloblastoma in a Patient with Curry-Jones Syndrome Binu Porath, PhD, Children's Mercy Hospital, Kansas City, MO, USA Identification of a Novel Likely Pathogenic PIK3R1 Variant by Targeted Next-Generation Sequencing Analysis in a Patient with Overgrowth Syndrome and Lymphatic Malformation Christopher Suciu, MD, MS Washington University School of Medicine in St. Louis, St. Louis, MO, USA Sex Check: Verifying Patient Sex Based on Off-Panel SNPs on the X Chromosome Jennifer Bynum, MD, Johns Hopkins, Baltimore, MD, USA A Discrepancy Between the Human Reference Genome (GRCh37) and Transcriptome (RefSeq) Results in the Incorrect Annotation of a Clinically-Relevant Sequence Variant in RECQL4 Lisa Lansdon, PhD, Children's Mercy Kansas City, Kansas City, MO, USA
10:15am - 11:45am	PLENARY SESSION Life Starts with DNA: Sequencing of the Baby Genome Newborn Genomic Sequencing for Diagnosis and Screening Jonathan S. Berg, MD, PhD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA The Babyseq Project: A Study of Newborn Genomic Sequencing Ingrid A. Holm, MD, MPH, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA
1:00pm - 2:30pm	CONCURRENT WORKSHOPS Variant Interpretation: Challenges and Progress towards Solutions Challenges of Variant Interpretation: Sources of Variability among VITAL Participants Elaine Lyon, PhD, Hudson Alpha, Huntsville, AL, USA ClinVar and ACMG Variant Classification Standards for Inherited Cardiovascular Disease Birgit Funke, PhD, Veritas Genetics, Danvers, MA, USA Harvard Medical School, Boston, MA, USA

Friday, November 2, 2018
SCIENTIFIC INFORMATION
7:00am - 8:00am	EARLY BIRD SESSIONS Keys to Publishing in Scientific Journals Barbara A. Zehnbauer, PhD, Emory University School of Medicine, Atlanta, GA, USA AMP Guidance/Standards for NGS Germline Variant Confirmation Kristy Crooks, PhD, University of Colorado, Denver, CO, USA
10:45am - 11:45am	CONCURRENT WORKSHOPS: Platform Presentations of Selected Abstracts Abstracts are selected by the Program Committee Platform Presentations of Selected Genetics Abstracts G044 - Designing and Implementing NGS Tests for Inherited Disorders – a Practical Framework with Step-by-Step Guidance for Clinical Laboratories Avni B. Santani, PhD, Children's Hospital of Philadelphia, Philadelphia, PA, USA G025 - Verification of Very Small Copy Number Variants (Micro CNVs) Detected on Whole Genome CMA Analysis and Implications for Clinical Reporting Ulrike P. Kappes, MPH, MD, PhD, Medical College of Wisconsin, Milwaukee, WI, USA G026 - Two-site Evaluation of a One-tube PCR/CE Assay that Resolves CAG Length Polymorphisms in Exon 1 of the HTT Gene Sarah Statt, PhD, Asuragen, Austin, TX, USA G021 - Brazilian Panorama of Whole Exome: Details of 315 Cases Roberta Sitnik, PhD, Hospital Israelita Albert Einstein, São Paulo, Brazil