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Come see us at the American Society of Human Genetics Annual Meeting in Houston! Use this floor plan to find us at Booth #634! 

Discover what you've been missing - integrated interpretation of CNV, AOH, and Sequence variants

Thursday, October 17th 
7:15am - 8:45am
Hilton Americas-Houston, Room 339


Dr. Carol Saunders
Clinical Director

Children's Mercy Hospital 

Title: Improving diagnostic rates in NGS-based diagnosis of pediatric disease

Description: This presentation will discuss the clinical validation of copy number detection from next generation sequencing data. Examples of pediatric cases solved using an integrated approach for variant and copy number detection will be presented.

Oval Jenny Ji

Dr. Jianling Ji
Assistant Director, Clinical Genomics Laboratory

Children's Hospital Los Angeles (CHLA) 

Title: Integrated analysis of sequence variants, copy number alterations, and regions of homozygosity facilitates accurate diagnosis in Mendelian disorders and pediatric cancers

Description: The evaluation of sequence variants, copy number alterations, and regions of homozygosity provides valuable clinical information for the diagnosis of both Mendelian disorders and pediatric cancers. In this talk, we will discuss test strategies and workflow in our laboratory, and use some case examples to demonstrate the importance of the integrated analysis.

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Dr. Ingrid Simonic
Deputy Director, Medical Genetics Laboratories, 
Cambridge University Hospitals, UK

Title: A retrospective evaluation of 211 clinical referrals for intellectual disability testing.

Description: The SAP scores for reported variants were evaluated retrospectively in order to assess their potential utility in variant filtering and classification. 211 routine diagnostic referrals analyzed using our integrated clinical exome pipeline were assessed. All included variants were discussed at multidisciplinary team meetings prior to reporting. Majority of the included variants were classed as VUSs and the associated SAP scores were evaluated for their utility in potential sub-classification of VUSs. Several clinical cases will be presented to illustrate our integrated analysis pipeline, including ‘genotype first’ scenarios, cases with more than one genetic diagnosis, tissue specific chimerism case and more.


Poster #2489F
Poster Session: Friday, Oct. 19 | 1:00pm - 3:00pm

Shared Poster with Dr. Ingrid Simonic, - CNV/SNV analysis of 844 ID genes vs. virtual panel testing based on HPO terms in singleton NGS referrals.

Dr. Simonic's clinical exome pipeline has been validated for detection of SNV, CNV and AOH and utilized diagnostically for 844 gene panel testing of singleton referrals using NxClinical software. Results from the exome pipeline were concordant with prior CMA testing with new pathogenic events also identified. The new single assay approach with HPO variant prioritization efficiently detects P and LP variants without additional analysis time. 

Exhibit Hours

Wednesday, October 16
Hall Open 10:00 am - 4:30 pm*
Thursday, October 17
Hall Open 10:00 am - 4:30 pm*
Friday, October 18
Hall Open 10:00 am - 3:30 pm*