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
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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

 

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