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Ring 20: Could the rare disease get left behind by next-generation gene sequencing?

pharmaphorum

Ring Chromosome 20 Syndrome, or (R)20, is an ultra-rare form of epilepsy with a devastating impact – yet despite huge leaps forward in gene sequencing in recent years, diagnoses are going down instead of up. The post Ring 20: Could the rare disease get left behind by next-generation gene sequencing? appeared first on.

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Researchers investigate genetic variants linked to paediatric diseases 

Drug Discovery World

PacBio, developer of sequencing solutions, has announced its HiFi sequencing technology will be used in a pilot project for the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital. .

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Next Generation Sequencing (NGS) Library Preparation Kits: Revolutionizing the Field of Genetic Sciences

Roots Analysis

Over the past few years, several companies have started offering a diverse range of genome sequencing products and services using various second and third generation sequencing technologies. Next Generation Sequencing (NGS) Library Preparation Kits. Next Generation Sequencing (NGS) Library Preparation Kits.

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Patients of African heritage have fewer actionable mutations

Drug Discovery World

Genomic profiling of patients who were treated for colorectal cancer showed that patients with African ancestry had fewer actionable mutations than patients with European ancestry. However, the extent to which differences in germline or somatic genomic alterations influence outcomes remains unknown.”

Genome 52
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Next Generation Sequencing (NGS) Library Preparation Kits Market: Current Scenario and Future Potential

Roots Analysis

Since the introduction of a gene sequencing method by Frederick Sanger in 1977, the field of genomic data collection and analysis has evolved significantly. Moreover, the manual protocols require extensive manipulation, costly reagents and long duration of skilled genomic library production. Concluding Remarks.

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New CRISPR-Based Tool Called PASTE Gene Editing Inserts Large DNA Sequences at Desired Sites

XTalks

Developed by MIT researchers Jonathan Gootenberg and Omar Abudayyeh, PASTE (Programmable Addition via Site-specific Targeting Elements) gene editing technology can insert genes as long as 36,000 DNA base pairs to liver cells in mice as well as several types of human cells.

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Why Trusted Research Environments are key to the future of genomics  

Drug Discovery World

Genomics is driving a revolution in drug development and, in the long run, the state of public healthcare. Advances in sequencing are leading to scientific breakthroughs in preventative care, faster diagnoses, and proactive medical interventions. The first draft human genome took a decade to create, and 13 years to complete.

Genome 52