ASHG 2022

ASHG 2022

Conference Location

Los Angeles Convention Center
1201 Figueroa St.

Los Angeles, CA 90015

Conference Dates

Oct. 25 - Oct. 29

Booth Number

622

Conference WebsiteASHG 2022

Title 
Author (BG) 
Type 
Date / Time / Location 
Deep RNAseq for Undiagnosed Disease Diagnosis
Pengfei Liu, PhD
Oct. 25
11:45 am – 12:45 pm
Meeting Room // 402 AB
Validation for Cinical Reporting of Whole Genome Sequencing
Christine Eng, MD
Oct. 25
11:45 am – 12:45 pm
Meeting Room // 402 AB
Microarray analysis using a comprehensive array with enhanced probe coverage for disease genes and SNP probes
Weimin Bi, PhD
Presentation Platform: Sequencing vs. panel testing: Is more better? // ProgNbr 477
Oct. 28
2:45 pm – 3:00 pm
Meeting Room // Petree Hall, West Building
Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology
Hongzheng Dai, PhD
Presentation Platform: Preconception carrier screening and rapid WGS of newborns // ProgNbr 470
Oct. 28
3:00 pm – 3:15 pm
Meeting Room // 502, West Building
Title 
Author (BG) 
Type 
Date / Time / Location 
Diagnostic metabolomic profiling of hypomyelinating leukodystrophy caused by DEGS1 deficiency
Charul Gijavanekar, PhD
Poster:  Omics Technologies // PB2971
Oct. 26
3:00 pm – 4:45 pm // Exhibit Hall
Exploring the complexity of scleroderma etiology by trio whole genome sequencing
Hongzheng Dai, PhD
Poster:  Complex Traits // PB1368
Oct. 26
3:00 pm – 4:45 pm // Exhibit Hall
Mitochondrial variants and short tandem repeat expansions detected by clinical whole genome sequencing
Katharina Schulze, PhD
Poster:  Molecular and Cytogenetic Diagnostics // PB2326
Oct. 26
3:00 pm – 4:45 pm // Exhibit Hall
Clinical genome and RNA sequencing with a novel, cheaper sequencing-by-synthesis technology
Pengfei Liu, PhD
Poster:  Omics Technologies // PB2936
Oct. 27
3:00 pm – 4:45 pm // Exhibit Hall
Comparison of positive findings between CMA/exome combo and Whole Genome Sequencing: A clinical lab experience
Xiaonan Zhao, PhD
Poster:  Molecular and Cytogenetic Diagnostics // PB2276
Oct. 27
3:00 pm – 4:45 pm // Exhibit Hall
Prenatal diagnostic testing in cases of cystic hygroma or increased nuchal translucency: A single center experience
Nichole M. Owen, PhD
Poster:  Prenatal, Perinatal, and Developmental Genetics // PB2115
Oct. 27
3:00 pm – 4:45 pm // Exhibit Hall
Combined FISH and cytogenetic testing increases the accuracy of classification and risk stratification of multiple myeloma samples
Janice Smith, PhD
Poster:  Cancer // PB1050
Oct. 27
3:00 pm – 4:45 pm // Exhibit Hall
Positive Findings in Clinical Mitochondrial Genome Testing by NGS
Yue Wang, PhD
Poster:  Molecular and Cytogenetic Diagnostics // PB2339
Oct. 27
3:00 pm – 4:45 pm // Exhibit Hall