One Million Solutions in Health™ Announces Important Factors in Designing Accurate and Reliable NGS Assays

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One Million Solutions in Health is proud to announce and share this webinar, “Important Factors in Designing Accurate and Reliable NGS Assays” by Dr. Patricia W. Mueller from the Centers for Disease Control and Prevention (CDC).

One Million Solutions in Health

One Million Solutions in Health

It is important to understand ways in which we can yield more accurate and reliable data when designing NGS assays.

One Million Solutions in Health is proud to announce and share this webinar, “Important Factors in Designing Accurate and Reliable NGS Assays” by Dr. Patricia W. Mueller, PhD, Chief, Molecular Risk Assessment Laboratory (MRAL), Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention (CDC).

Researchers, clinical laboratories, and companies are developing next-generation sequencing (NGS) applications that include newborn screening (NBS). Accurate NGS sequence depends on certain key processes, as discussed in this webinar entitled, "Important Factors in Designing Accurate and Reliable NGS Assays".

It has recently been determined that in the human genome approximately 17% of the known functional genes have pseudogenes. In order to design accurate and reliable next-generation sequencing assays, it is important to check for pseudogenes associated with the genes of interest and design appropriate assays or validation for these genes. Pseudogenes cause a lack of specificity and will result in false reports.

For PCR enrichment, one should map known mutations and variants and avoid these regions when designing primers. Check primer specificity, and overlap amplicons so that primer regions are sequenced. When using hybrid capture arrays or beads, the oligonucleotides for the genes of interest should be checked for specificity.

When sequencing, an average coverage of 30X will result in many regions with little or no coverage. A sequencing run should have adequate coverage to reliably capture the mutations and variants of interest. A quality score of 30, a commonly used quality score cut off in data analysis, means that the probability of an incorrect base call is 1 in 1000.

Filtering data with this quality score will result in approximately 1 million incorrect base calls / Gb of NGS data. NGS relies on good coverage to overcome the high error rate. The examination of samples with known mutations and healthy controls allows the determination of the percentage of reads that are needed to accurately call a heterozygote.

As discussed in this webinar, finally, it is important to trim primers from the data sequences in addition to adaptors so that the resulting data for these regions is from target regions in samples. Careful attention to these steps in the NGS processes will yield more accurate and reliable data.

Review the webinar here: Important Factors in Designing Accurate and Reliable NGS Assays.

ABOUT ONE MILLION SOLUTIONS IN HEALTH:

As a not-for-profit, the goal of One Million Solutions in Health™ is to shape health care by sharing solutions and, importantly, to accelerate the discovery, development and delivery ... of innovative cures, treatments and preventative measures for patients around the world. By facilitating efforts to ensure organizations can Connect, Learn + Share, Innovate and Collaborate, our vision is to improve health care delivery, accelerate life sciences research and share patient and consumer-focused ideas and solutions.

By engaging scientists, entrepreneurs, investors, innovators, industry experts, health care professionals, and patients across various disciplines, and from around the world, we can utilize the power of the internet to disrupt things in a positive and transformative way to accelerate the movement of new solutions and scientific discoveries from the scientist to the patient.

The Technology Evaluation Consortium (TEC) brings together life sciences and/or health care companies and technology providers, and other relevant partners (e.g., government and Universities) to evaluate and validate technologies or services in a collaborative environment. The model empowers technology providers and industry end users to collectively assess a number of technologies in a cost-effective manner, producing a depth and breadth of results that no company can achieve alone.

We are on our way towards accelerating high-potential innovations, catalyzing investment and increasing awareness of, and support for, important ideas to improve health and save lives. We are thrilled to have you be a part of this transformative journey!

IF YOU HAVE A TECHNOLOGY, SCIENTIFIC DISCOVERY OR MEDICAL SOLUTION YOU WOULD LIKE US TO HELP SHARE WITH THE WORLD, CONTACT US.

For more information: http://www.onemillionsolutionsinhealth.org

CONTACT:

One Million Solutions in Health™
Dawn Van Dam
Executive Director & CEO
Email: dawn.vandam(at)onemillionsolutionsinhealth(dot)org
Phone: 416-402-8274
Twitter: @DawnVanDam

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