ASHG 2018
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
