Inherited Conditions


Thursday, November 1, 2018


7:00am - 8:00am


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


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


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


7:00am - 8:00am


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


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