CMA has been the first-tier test for developmental delay/intellectual disabilities, autism spectrum disorders and multiple congenital anomalies but recent advances in next-generation sequencing (NGS) may one day change that standard. Studies have been performed on NGS as an alternative test but costs are of concern particularly with higher depth sequencing (WES, WGS ..read more

Copy number variations (CNVs) are genomic alterations that result in abnormal copies of one or more genes. Structural genomic events such as duplications, deletions, translocations, and inversions can cause CNVs ..read more

If your time is short: Homologous recombination deficiency (HRD) is a cell’s inability to repair DNA strands resulting in an acquired rate of chromosome breaks. HRD scoring is an analytical approach to measuring the cellular rate of acquiring chromosome breaks in specific, quantifiable patterns, or “genomic scars.” Cells with elevated HRD scores have been shown to be more sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors and platinum-based therapies. Single nucleotide polymorphism (SNP) arrays and Next-Generation Sequencing (NGS) are both commonly used methodologies for detecting H ..read more

Conventional genomic analysis software has, for years, forced frustrating inefficiencies on clinical labs tasked with reviewing constitutional and somatic patient samples and making critical time-sensitive decisions. Two software shortcomings, in particular, tend to hurt the speed and quality of the clinical investigation and reporting that comprises these reviews, especially with complex cases ..read more

November 23, 2021 - One of October’s headlines in the field of genomics and genetics included the acquisition of BioDiscovery by Bionano Genomics. I spoke with Soheil Shams, President, Founder, and CSO of BioDiscovery and now Chief Informatics Officer (CIO) at Bionano Genomics (a 250 person company and growing), about this interesting marriage between a variant analysis company and a genome mapping provider, and the impact of this acquisition on the future of the genomics market and the clinical setting. BioDiscovery, a 30 person company headquartered in El Segundo, a suburb of Los ..read more