Venue
ASHG 2019
Title |
Author |
Type / Session # |
Date / Time / Location |
|
| 1 | Retrospective Whole Exome Sequencing Analysis Reveals Variants in BAF Complex Genes Associated with Global Developmental Delay, Epilepsy, and Dysmorphism | John Lattier, Ph.D. | PLATFORM // Session 57 Solving the Unsolved: Strategies for Increasing Diagnostic Yield |
Oct. 17 11:15 am – 11:30 am Room 371A – Level 3 / Convention Center |
| 2 | Clinical Whole Genome Sequencing and Consultagene: A Virtual Delivery Platform for Medical Genetics Services | Pengfei Liu, Ph.D. Brendan Lee, M.D., Ph.D. |
EXHIBITOR EDUCATION EVENT | Oct. 17 12:45 pm – 2:00 pm Texas Ballroom B – Level 4 / Marriott Marquis Houston |
| 3 | Breaking the Interpretation Bottleneck: Examining the Utility of an Automated Genomic Interpretation Algorithm in a Clinical Genetic Lab | Linyan Meng, Ph.D. | PLATFORM // Session 107 Methods and Resources for Improved Genomic Interpretation |
Oct. 19 11:00 am – 11:15 am Room 361D – Level 3 / Convention Center |
ASK THE EXPERT
Topic |
Expert |
Spoken Language(s) |
Date / Time / Location |
|
| 1 | Whole Genome Sequencing | Pengfei Liu, Ph.D. | English, Chinese | Oct. 16 2:00 pm – 3:00 pm Exhibit Hall, Booth #1301 |
| 2 | Genetic Counseling | Pat Ward, MS, CGC | English | Oct. 16 2:00 pm – 4:00 pm Exhibit Hall, Booth #1301 |
| 3 | GeneAware (Carrier) Testing | Jennifer Scull, Ph.D. | English | Oct. 16 3:00 pm – 4:00 pm Exhibit Hall, Booth #1301 |
| 4 | Hereditary Cancer Panels | Yue Wang, Ph.D. | English, Chinese | Oct. 17 2:00 pm – 3:00 pm Exhibit Hall, Booth #1301 |
| 5 | Genetic Counseling | Pat Ward, MS, CGC | English | Oct. 17 2:00 pm – 4:00 pm Exhibit Hall, Booth #1301 |
| 6 | Chromosomal Microarray Analysis | Weimin Bi, Ph.D. | English, Chinese | Oct. 17 3:00 pm – 4:00 pm Exhibit Hall, Booth #1301 |
| 7 | Whole Genome Sequencing | Pengfei Liu, Ph.D. | English, Chinese | Oct. 18 2:00 pm – 3:00 pm Exhibit Hall, Booth #1301 |
| 8 | Genetic Counseling | Pat Ward, MS, CGC | English | Oct. 18 2:00 pm – 4:00 pm Exhibit Hall, Booth #1301 |
| 9 | Hereditary Cancer Panels | Yue Wang, Ph.D. | English, Chinese | Oct. 18 3:00 pm – 4:00 pm Exhibit Hall, Booth #1301 |
Title |
Author |
Type / Poster # |
Date / Time / Location |
|
| 1 | Clinical Utility of a 12-gene Noonan Spectrum Disorders Panel in Prenatal and Postnatal Cohorts | Zhao Chen, Ph.D. | POSTER // #543 Prenatal, Perinatal, Reproductive, and Developmental Genetics |
Oct. 16 2:00 pm – 3:00 pm Exhibit Hall |
| 2 | Phenotypic Expansion of TAF1-related Syndrome: TAF1 Variants and Clinical Phenotypes | Hanyin Cheng, Fellow | POSTER // #597 Prenatal, Perinatal, Reproductive, and Developmental Genetics |
Oct. 16 2:00 pm – 3:00 pm Exhibit Hall |
| 3 | Haploinsufficiency of PRR12 Causes a Congenital Multiple-malformation Neurodevelopmental Syndrome with a Wide Phenotypic Spectrum | Weimin Bi, Ph.D. | POSTER // #2553 Molecular and Cytogenetic Diagnostics |
Oct. 16 2:00 pm – 3:00 pm Exhibit Hall |
| 4 | New Cases with “CNV-mutator” Phenotype Characterized by Concurrent de Novo NAHR-mediated Deletion Events | Bo Yuan, Ph.D. | POSTER // #3102 Molecular Effects of Genetic Variation |
Oct. 16 3:00 pm – 4:00 pm Exhibit Hall |
| 5 | Clinical Validation and Implementation of Whole Genome Sequencing in Molecular Diagnostics of Mendelian Disorders | Yue Wang, Ph.D. | POSTER // #545 Prenatal, Perinatal, Reproductive, and Developmental Genetics |
Oct. 17 3:00 pm – 4:00 pm Exhibit Hall |
| 6 | Game of Exomes: Comparing Sequencing of Commercial Laboratories in the Undiagnosed Disease Network | Hongzheng Dai, Ph.D | POSTER // #2608 Molecular and Cytogenetic Diagnostics |
Oct. 17 3:00 pm – 4:00 pm Exhibit Hall |
| 7 | Haploinsufficiency of PRR12 Causes a Congenital Multiple-malformation Neurodevelopmental Syndrome with a Wide Phenotypic Spectrum | Weimin Bi, Ph.D. | POSTER // #545 Prenatal, Perinatal, Reproductive, and Developmental Genetics |
Oct. 18 1:00 pm – 2:00 pm Exhibit Hall |
| 8 | A Novel Next-Generation Sequencing Platform for Hereditary Cancer Risk Evaluation | Jun Yang, Ph.D. | POSTER // #977 Cancer Genetics |
Oct. 18 1:00 pm – 2:00 pm Exhibit Hall |
| 9 | Identification of an Insertional Duplication of the AMT Gene in a Patient with Glycine Encephalopathy | Lei Wang, Ph.D. | POSTER // #2507 Molecular and Cytogenetic Diagnostics |
Oct. 18 1:00 pm – 2:00 pm Exhibit Hall |
| 10 | Development of a Clinical Summary Tool that Reduces Clinical Note Review Time and Standardizes Phenotype Terminology | Jason Salvo, Ph.D. | POSTER // #1706 Bioinformatics and Computational Approaches |
Oct. 18 2:00 pm – 3:00 pm Exhibit Hall |