ASHG 2019
American Society of Human Genetics
Conference Location
George R. Brown Convention Center
Conference Dates
Oct. 15 - Oct. 19
Booth Number
1301
Conference WebsiteASHG Website
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Abstracts & Posters
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 |
Speaking Engagements
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 |
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