American Society of Human Genetics
Conference Location
San Diego Convention Center
Conference Dates
Oct. 16 - Oct. 20
Booth Number
725
Conference WebsiteASHG Website
MEETING REQUEST FORM
Abstracts & Posters
Title |
Author |
Type / Session # |
Date / Time / Location |
|
| 1 | Genetic sequencing and mass spectrometry biomarkers link diagnosis and treatment precision for cardiovascular disease. | Jennifer Posey, Ph.D. | POSTER // #3132 Cardiovascular Phenotypes |
Oct. 17 2:00 pm – 4:00 pm Exhibit Hall |
| 2 | Experience and challenges of variant classification of the DMD gene in reproductive carrier screening test | Hanyin Cheng, Ph.D. | POSTER // #2952 Molecular & Cytogenetic Diagnostics |
Oct. 17 2:00 pm – 4:00 pm Exhibit Hall |
| 3 | Clinical utility of Dual Genome NGS panel for mitochondrial disorder: Towards comprehensive understanding about disease etiology. | Hongzheng Dai, Ph.D. | POSTER // #2956 Molecular & Cytogenetic Diagnostics |
Oct. 18 2:00 pm – 4:00 pm Exhibit Hall |
| 4 | Repeat expansion disorders in patients evaluated by clinical whole exome sequencing. | Shen Gu, Ph.D. | POSTER // #2995 Molecular & Cytogenetic Diagnostics |
Oct. 18 2:00 pm – 4:00 pm Exhibit Hall |
| 5 | Full-gene sequencing based expanded carrier screening of over 150 disorders | Charul Gijavanekar, Ph.D. | POSTER // #521 Prenatal, Perinatal, and Reproductive Genetics |
Oct. 18 2:00 pm – 4:00 pm Exhibit Hall |
| 6 | Clinical metabolomics: A pivotal tool for the diagnosis and treatment of inherited metabolic disorders to enable precision medicine. | Ning Liu, Ph.D. | POSTER // #1813 Omics Technologies |
Oct. 18 2:00 pm – 4:00 pm Exhibit Hall |
| 7 | Clinical exome testing as an effective diagnostic tool for epilepsy/seizure disorders. | Fan Xia, Ph.D. | POSTER // #2908 Molecular & Cytogenetic Diagnostics |
Oct. 18 2:00 pm – 4:00 pm Exhibit Hall |
| 8 | Parental age effects on the incidence of human de novo pathogenic variants. | Ye Cao, Ph.D. | POSTER // #540 Prenatal, Perinatal, & Reproductive Genetics |
Oct. 19 2:00 pm – 4:00 pm Exhibit Hall |
| 9 | Neural stem cells from MAND patients reveal a significant role for MBD5 in neurodevelopment, circadian rhythm, Wnt and leptin signaling, and autism. | Sureni Mullegama, Ph.D. | POSTER // #1745 Omics Technologies |
Oct. 19 2:00 pm – 4:00 pm Exhibit Hall |
| 10 | Non-invasive prenatal sequencing for pregnancies with fetal skeletal dysplasia using cell-free fetal DNA. | Yanjun Jiang, Ph.D. | POSTER // #459 Prenatal, Perinatal, and Reproductive Genetics |
Oct. 19 2:00 pm – 4:00 pm Exhibit Hall |
Speaking Engagements
Title |
Author |
Type / Session # |
Date / Time / Location |
|
| 1 | Full-gene sequencing based expanded carrier screening of over 150 disorders | Charul Gijavanekar, Ph.D. | POSTER TALK // Session I Prenatal, Perinatal, and Reproductive Genetics |
Oct. 16 7:00 pm – 8:00 pm Upper Level, Room 6C & 6D |
| 2 | Molecular diagnostic and clinical genomics outcomes of post-reporting reanalysis of exome data over time | Pengfei Liu, Ph.D. | PLATFORM // Session C Reanalysis of Sequencing Data to Increase Diagnostic Yield |
Oct. 17 6:00 pm – 7:00 pm Upper Level, Room 20BC |
| 3 | CNVs cause autosomal recessive genetic diseases with or without involvement of SNVs | Weimin Bi, Ph.D. Bo Yuan, Ph.D. |
PLATFORM // Session C Characterization of Structural Variation in Population Controls and Disease |
Oct. 17 6:00 pm – 7:00 pm Upper Level, Room 20A |
| 4 | Variants unmasked by recurrent deletions modify disease presentations of genomic disorders | Bo Yuan, Ph.D. | PLATFORM // Session Variant Interpretation Practices and Resources |
Oct. 17 4:15 pm – 5:45 pm Upper Level, Room 20A |
ASK THE EXPERT
Topic |
Expert |
Spoken Language(s) |
Date / Time / Location |
|
| 1 | NGS Technical | Federica Gibellini | English, Italian | Oct. 17 11:00 am – 12:00 pm Exhibit Hall, Booth #725 |
| 2 | Mitochondrial & Panel Testing | Yue Wang, Ph.D. | English, Chinese | Oct. 17 2:00 pm – 3:00 pm Exhibit Hall, Booth #725 |
| 3 | Whole Exome Sequencing (WES) & Cancer Testing | Pengfei Liu, Ph.D. | English, Chinese | Oct. 17 3:00 pm – 4:00 pm Exhibit Hall, Booth #725 |
| 5 | Cancer Genomics | Shashikant Kulkarni, MS, Ph.D., FACMG | English | Oct. 18 11:00 am – 12:00 pm Exhibit Hall, Booth #725 |
| 6 | PreSeek (NIPT) & Panel Testing | Yanjun Jiang | English, Chinese | Oct. 18 11:00 am – 12:00 pm Exhibit Hall, Booth #725 |
| 7 | Chromosomal Microarray Analysis (CMA) & Biochemical/Metabolomics Testing | Weimin Bi, Ph.D.
Qin Sun, Ph.D. |
English, Chinese | Oct. 18 1:00 pm – 2:00 pm Exhibit Hall, Booth #725 |
| 8 | Biochemical & Metabolomics Testing | Sarah Elsea, Ph.D. | English | Oct. 18 2:00 pm – 3:00 pm Exhibit Hall, Booth #725 |
| 9 | Whole Exome Sequencing (WES) | Rui Xiao, Ph.D. | English, Chinese | Oct. 19 11:00 am – 12:00 pm Exhibit Hall, Booth #725 |
| 10 | PreSeek (NIPT) & GeneAware (Carrier) Testing | Jinglan Zhang, Ph.D. | English, Chinese | Oct. 19 12:00 pm – 1:00 pm Exhibit Hall, Booth #725 |
| 11 | Mitochondrial & Panel Testing | Lisa Wang, Ph.D. | English, Chinese | Oct. 19 1:00 pm – 2:00 pm Exhibit Hall, Booth #725 |
| 12 | Genetic Counseling | Pat Ward, MS, CGC | English | Oct. 19 2:00 pm – 3:00 pm Exhibit Hall, Booth #725 |
| 13 | GeneAware (Carrier) Testing | Charul Gijavanekar, Ph.D. | English | Oct. 19 3:00 pm – 4:00 pm Exhibit Hall, Booth #725 |
Product Experts
