2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Bionano NxClinical Software Enables Comprehensive Analysis and Interpretation of All Classes of Genomic Variants in Rare Disease Constitutional Testing Applications

Bionano NxClinical Software Enables Comprehensive Analysis and Interpretation of All Classes of Genomic Variants in Rare Disease Constitutional Testing Applications

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Bionano VIA software, developed by Bionano Genomics, allows for comprehensive analysis and interpretation of genomic variants in rare disease constitutional research. Currently, there is no single technology or software that can accomplish a genome-wide analysis of all genomic variant classes. Routine technologies in rare disease clinical diagnostics include karyotype and FISH for chromosomal analysis, chromosomal microarray (CMA), Next Generation Sequencing (NGS), and optical genome mapping (OGM) for molecular analysis. Bionano VIA software combines optical genome mapping with short read genome sequencing, providing the most comprehensive analysis of genomic variants. This software allows for simultaneous analysis of multiple data types, resulting in improved efficiency and increased detection of complex variants. The workflow involves evaluating large-scale chromosomal events, assessing copy number variants, analyzing structural variants, and classifying single nucleotide variants. The software also allows for case-specific and condition-specific information to be added, facilitating autopopulation of reportable data and interpretations into a formatted report template. A case study is provided that demonstrates the use of Bionano VIA software in identifying the genetic cause of a 6-year-old patient's neurological symptoms. The software detected two heterozygous variants in the recessive gene POLR3B, leading to the diagnosis of autosomal recessive hypomyelinating leukodystrophy. Overall, Bionano VIA software provides a powerful tool for analyzing genomic variants in rare disease research applications.

Asset Subtitle

Co-Author - Vruti Mehta, MS; Co-Author - Rachel D. Burnside, PhD, MBA; Presenting Author - Alex R. Hastie, PhD; Co-Author - Shalini Verma, MS; Co-Author - Alka Chaubey, MS, BS, PhD;

Meta Tag

array CGH

Chromosomal Abnormalities

Clinical Applications of Molecular Cytogenetics

Clinical Cytogenetics

Cytogenetics

Genomic Methodologies

Microarray

Molecular Cytogenetics

Co-Author Vruti Mehta, MS

Co-Author Rachel D. Burnside, PhD, MBA

Co-Author Shalini Verma, MS

Co-Author Alka Chaubey, MS, BS, PhD

Presenting Author Alex R. Hastie, PhD

Keywords

Bionano VIA software

Bionano Genomics

genomic variants

rare disease constitutional research

single technology

comprehensive analysis

genome-wide analysis

rare disease clinical diagnostics

optical genome mapping

short read genome sequencing