| Title | Primary Author | Type | Date / Time / Location |
| Think Rare: Solving the Undiagnosed Cases Beyond Exome or Genome Sequencing | Pengfei Liu | Presentation | March 13 //
4:00 pm – 5:00 pm (EST) // |
| Preparing for a Genome World | AI and Informatics Automation at the Core. | Christine Eng in collaboration with Illumina | Presentation | March 14 //
11:55 am – 12:25 pm (EST) // |
ACMG 2024
ACMG 2024
Conference Location
Metro Toronto Convention Center
222 Bremner Blvd, Toronto, ON
M5V 2T6, Canada
Conference Dates
Mar.12 – Mar.16
Booth Number
1200
Conference WebsiteACMG 2024
| Title | Primary Author | Type | Date / Time / Location |
| Detection of Single-Gene Copy Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis | Dr. Matthew Hoi Kin Chau | Poster Presentations | March 14 //
10:30 am – 12:00 pm (EST) // |
| Novel Presentation of Dextrocardia in TGIF1¬ Holoprosencephaly | Dr. Casey Thornton | Poster Presentations | March 14 //
10:30 am – 12:00 pm (EST) // |
| Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly | Dr. Nichole Owen | Poster Presentations | March 14 //
10:30 am – 12:00 pm (EST) // |
| More Than an Extra Chromosome: Unexpected Multiple Diagnoses in Individuals with Down Syndrome | Dr. Liesbeth Vossaert | Poster Presentations | March 14 //
10:30 am – 12:00 pm (EST) // |
| Carrier Screening with the ACMG 113: An Early Look and New Insights | Primary Author: Vivienne Souter, MD (Medical Director, Women’s Health, Natera)
Contributing BG Author: Linyan Meng, PhD, FACMG |
Poster Presentations | March 14 //
10:30 am – 12:00 pm (EST) // |
| PMP22 Single Exon Deletion in a Proband with Hematologic Malignancy and Family History of Charcot-Marie-Tooth disease | Dr. Katharina Schulze | Poster Presentations | March 15 //
10:30 am – 12:00 pm (EST) // |
| Development of a Comprehensive Gene-/Disease-Specific Analysis and Knowledge Base to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting in Baylor Genetics Diagnostic Lab | Dr. Xi Luo | Poster Presentations | March 15 //
10:30 am – 12:00 pm (EST) // |
| Phenotype Expansion or Multiple Diagnosis: Experience from Additional Findings in Patients with Common Aneuploidies | Dr. Xiaonan Zhao | Poster Presentations | March 15 //
10:30 am – 12:00 pm (EST) // |
| Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death | Dr. Eric Kao | Poster Presentations | March 15 //
10:30 am – 12:00 pm (EST) // |
| Positive Findings in Clinical Mitochondrial Genome Testing by NGS | Dr. Yue Wang | Poster Presentations | March 15 //
10:30 am – 12:00 pm (EST) // |