AI-Driven NGS Data Analysis: A Variant Prioritization Pipeline for Precision Medicine

White PapersBy Tolga Aslan, PhD June 7, 2023

“We present an innovative Next Generation Sequencing (NGS) data analysis feature in the SEQ Platform that integrates Artificial Intelligence (AI) to create a highly efficient variant prioritization pipeline with a 97% successful variant prioritization rate. This transformative solution will streamline diagnostic procedures and accelerate the discovery of clinically relevant genetic variants, enhancing the precision and…

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SEQ Platforms’s Extended Annotation: A Solution for Alternative Isoforms in NGS Data Analysis

White PapersBy Tolga Aslan, PhD May 8, 2023 Leave a comment

“Alternative splicing is a common and essential mechanism seen in ~94% of human genes. With our Extended Annotation feature, we provide ACMG classifications for all alternative isoforms. Extended Annotation feature provides clinically relevant alterations that can affect diagnosis and treatment in NGS data analysis.” Alternative splicing allows a single gene to produce multiple protein isoforms…

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How Decreasing Genome Sequencing Costs Effects Clinical Genetics and Precision Medicine

ArticlesBy Ahmet Can Türkoğlu April 28, 2023 Leave a comment

The decreasing costs of genome sequencing are transforming clinical genetics and precision medicine by making genetic testing more affordable and accessible. Discover the factors behind these cost reductions and how they impact clinical genetics and the future of medicine in our latest article.

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Why FastQ is a Better Starting Point for Clinical NGS Analysis?

ArticlesBy Ahmet Can Türkoğlu July 19, 2022

Get insight about why FastQ file format is a superior starting point for clinical NGS data analysis compared to VCF. Take a look at the advantages of using raw sequencing data, including data completeness, customizable analysis, and the ability to detect novel genetic variants crucial in clinical contexts.

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The Effects of Sequencing Depth and Cohort Size on NGS CNV Analysis

White PapersBy Tolga Aslan, PhD February 28, 2021

Delve into the impact of sequencing depth and cohort size on NGS CNV analysis, exploring the relationship between these factors and the sensitivity and specificity of detecting copy number variations in genetic studies.

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SEQ Platform’s Automated Variant Classification Tool: Highlighting VUS+ and VUS++ Classification

White PapersBy Tuncay Şeker, PhD December 4, 2019

Discover SEQ’s Automated Variant Classification Tool, which incorporates ACMG’s Standards and Guidelines, and learn how the additional VUS+ and VUS++ classifications can improve variant interpretation and prioritization.

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AI-Driven NGS Data Analysis: A Variant Prioritization Pipeline for Precision Medicine

SEQ Platforms’s Extended Annotation: A Solution for Alternative Isoforms in NGS Data Analysis

How Decreasing Genome Sequencing Costs Effects Clinical Genetics and Precision Medicine

Why FastQ is a Better Starting Point for Clinical NGS Analysis?

The Effects of Sequencing Depth and Cohort Size on NGS CNV Analysis

SEQ Platform’s Automated Variant Classification Tool: Highlighting VUS+ and VUS++ Classification

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