AI-Supported Genetic Data Analysis Platform
This technical review examines how cohort size (number of samples) and inter-sample correlation influence the power and error rates of detecting genomic copy number variations. It covers theoretical and practical findings, scientific evidence from the literature, algorithmic comparisons, design considerations, and the importance of sample size. What Are Copy Number Variants (CNVs)? Genetic diversity in […]
The artificial intelligence-supported genetic data analysis platform NGS Cloud has reached molecular diagnosis due to its holistic CNV detection approach in an infant whose findings resemble a heterogenic genetic aetiology. The diagnostic yield of whole exome sequencing (WES) tests remains 25-40%, although there is a vast improvement in the last decade (1). Moreover, it takes […]
The artificial intelligence-supported genetic data analysis platform NGS Cloud reached the diagnosis within minutes. The diagnostic yield of whole exome sequencing (WES) tests remains 25-40%, although there is a vast improvement in the last decade (1). Moreover, it takes 6 to 8 years for rare diseases to get an accurate diagnosis (2). We are living […]
The artificial intelligence-supported genetic data analysis platform NGS Cloud has been diagnosed due to its holistic CNV detection approach in a deceased neonate. The diagnostic yield of whole genome sequencing (WGS) tests remains 25-40%, although there is a vast improvement in the last decade (1). Moreover, it takes 6 to 8 years for rare diseases […]
