Unleashing the power of genomics: A webinar review

Are you interested in the fascinating world of genomics and its potential to transform medicine? If so, there’s a webinar that you simply cannot miss. Dr. Emily Farrow, an Assistant Laboratory Director at Children’s Mercy Hospital, has presented an enlightening webinar on automated DNA isolation for long-read next-generation sequencing.

The promise of long read sequencing

Dr. Farrow discusses the importance of high integrity, high molecular weight DNA for various assays and the challenges faced in pediatric DNA isolation. She emphasizes the need for a single DNA isolation method that supports current and future assays, including long read sequencing.

Long-read sequencing has shown superior metrics in detecting single nucleotide variants, structural variants, and methylation patterns. It has led to improved diagnostic yields for rare diseases and has the potential to redefine our understanding of carrier frequencies for certain genetic conditions.

The hospital’s research program, Genomic Answers for Kids, has sequenced over 1500 HiFi genomes, leading to significant findings and the validation of long read sequencing as a clinical laboratory developed test. The technology has proven beneficial in diagnosing complex cases, such as spinal muscular atrophy caused by single nucleotide variants, which were undetectable by short-read sequencing. In this webinar, Dr. Farrow concludes that long-read sequencing, enabled by high-quality DNA isolation, is transforming genomic medicine by providing comprehensive and accurate genetic analysis in a single assay. The center aims to expand long-read sequencing to the outpatient population and refine de Novo assembly for clinical use.

This webinar is not just about the science; it’s about the real-world impact of these advancements. The presentation by Dr. Farrow highlights the successful implementation of long-read sequencing in an inpatient population at Children’s Mercy, resulting in a diagnostic rate of over 50%. The center has standardized DNA isolation processes and has a large biobank of samples, allowing for efficient genetic testing.

So, if you’re interested in the future of genomics and its potential to revolutionize medicine, check out. Tune in to learn, be inspired, and see how the power of genomics is being harnessed to make a real difference in patients’ lives.

For research use only. Not for use in diagnostic procedures.