2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Whole-genome sequencing as a first assay has the potential to shorten diagnosis time for neurodevelopmental disorders

Whole-genome sequencing as a first assay has the potential to shorten diagnosis time for neurodevelopmental disorders

Pdf Summary

This study highlights the potential of using whole-genome sequencing (WGS) as the first assay in diagnosing neurodevelopmental disorders. These disorders, which include developmental delay, intellectual disability, and autism, affect millions of children in the US. A genetic diagnosis can provide important information for prognosis, recurrence risk, and treatment plans, but many children with these disorders are left without a genetic diagnosis or endure a long diagnostic process. WGS has the ability to detect multiple types of genetic variants, including single nucleotide variants, small insertions and deletions, and copy number variants. The study also discusses the use of clinical algorithms to detect additional structural variants and short tandem repeats from WGS data. The potential of WGS is illustrated in Figure 1, which demonstrates its ability to detect various types of variants. Figure 2 provides an overview of the copy number variant calling pipeline, showing an example heterozygous deletion in WGS data. The study includes results on the distribution of variant types, with duplications and deletions being the most common. The validation results of WGS by variant type is also presented. Overall, this study emphasizes the potential of using WGS as a faster and more comprehensive diagnostic tool for neurodevelopmental disorders.

Asset Subtitle

Presenting Author - Kate Im, PhD; Co-Author - Pauline Ng, PhD; Co-Author - Premal Shah, PhD; Co-Author - Matthew Rabinowitz, PhD; Co-Author - Brynn Levy, M.Sc.(Med).,PhD.; Co-Author - Akash Kumar, MD PhD;

Meta Tag

Genome sequencing

Intellectual disability

Sequencing

Co-Author Pauline Ng, PhD

Co-Author Premal Shah, PhD

Co-Author Matthew Rabinowitz, PhD

Co-Author Brynn Levy, M.Sc.(Med).,PhD.

Co-Author Akash Kumar, MD PhD

Presenting Author Kate Im, PhD

Keywords

whole-genome sequencing

neurodevelopmental disorders

genetic diagnosis

prognosis

treatment plans

genetic variants

copy number variants

structural variants

short tandem repeats

validation results