What is the better technology to use – exome (ES) or genome (GS) sequencing? With few published head-to-head comparisons, a recent meta-analysis (https://hubs.ly/Q02cJfY90) of 161 studies from 31 countries/regions aimed to draw the comparison in a diverse population of patients with rare disease. They found that ES and GS offer similar diagnostic rates of 30-35%. GS provided an increased clinical utility over ES without an impact on VUS rates. Hear more about how they applied their findings to their own decision making on GenePods (https://hubs.ly/Q02cJ8Tq0). Remember, knowledge is power, and staying informed about the latest advancements in genetic testing can lead to better patient outcomes. Let's continue to push the boundaries of precision medicine together! #ExomeSequencing #GenomeSequencing #RareDiseases #ClinicalUtility #GeneChat #AmbryTopTenPublications
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ICYMI: Margo Gallegos, MS, CGC, recently spoke at the 2024 Advances in Autism Conference. Her presentation, "Precision Therapeutics in Profound Autism," explores how exome testing is a powerful tool that will drive future insights in autism and other pediatric-onset disorders. #exome #genetictesting #autism #VUS #PatientforLife https://hubs.ly/Q02D49MW0
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We often think of gene-disease validity (GDV) in terms of new and rare disease. However, GDV analysis is ongoing as new data becomes available. When assessing GDV for a very common disease like breast cancer, multiple factors must be considered and associations may be recategorized over time. Explore this topic with Jennifer Herrera-Mullar, MGC, CGC, DMA. #breastcancer #hereditarycancer #genetictesting #AmbryKnowsGenes https://hubs.ly/Q02ChGy60
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"What is my risk of developing breast cancer?" Sarah Campian, MS, CGC – Senior Genomic Science Liaison, Oncology explains how healthcare providers can better answer that question for their patients and develop proactive screening plans with the help of The Ambry CARE Program®. https://hubs.ly/Q02ChQnL0 #personalized #proactive #CARE #genetictesting #breastcancer
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Variants of uncertain significance (VUS) are more frequent findings in underrepresented racial and ethnic groups across a variety of clinical indications. Carrie Horton, MS, CGC, explores what labs can do to improve variant classification accuracy. #VUS #genetictesting #healthequity https://hubs.ly/Q02ChN0_0
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Join us for a webinar, Wednesday, June 26, 2024, at 11:00am PDT. https://hubs.ly/Q02D18D80
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LGBTQ+ scientists have left an indelible mark on the scientific community. This Pride Month, Ambry celebrates their achievements, resilience, and unwavering dedication to progress and knowledge. Together, we recognize and uplift the diverse voices shaping the future of science! #PrideMonth #LGBTQScienceIcons #InnovatorsInSTEM
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Exome testing and a diagnosis of Dravet syndrome opened up many possibilities for one family, including an online community and treatment options. Read more about Morgan's story, specifics about Dravet syndrome, and ways to get involved. #dravetsyndrome #exome https://hubs.ly/Q02CCf7k0
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Ambry Recognizes Dravet Syndrome Awareness Day Morgan Turpin, Ambry Sr. Technical Systems Manager, continues to advocate for her son Shayne and other families who are affected by Dravet Syndrome to increase awareness, funding and research. https://hubs.ly/Q02CC9Vy0
Patient for Life - Morgan Turpin
https://vimeo.com/
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Are you a recent Genetic Counseling grad? Join our genetic science liaisons at Ambry's Summer Genetic Counseling Boards Review! We've helped hundreds study with this trivia-style event. Register at https://hubs.ly/Q02CJg0f0 for the session that fits your schedule. All sessions feature the same content. #genechat #geneticcounseling #boardsreview
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Headed to the 2024 Global NF Conference? Join Dr. Shoji Ichikawa in Brussels, Belgium, for a poster presentation diving into the association of lower variant allele fraction (VAF) and NF1 variant pathogenicity. #childrenstumorfoundation #endingNFthroughresearch
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