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    Diseases caused by defects in mitochondrial DNA (mtDNA) maintenance machinery, leading to mtDNA deletions, form a specific group of disorders. However, mtDNA deletions also appear during aging, interfering with those resulting from mitochondrial disorders. Here, using next-generation sequencing (NGS) data processed by eKLIPse and data mining, we established criteria distinguishing age-related…

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    • A tool to assist with detection and diagnosis of mtDNA maintenance defects—eKLIPse https://t.co/8YKPVLE8XZ #OBGYN #ELSI #Genetics https://t.co/7xOOy25l01

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    Login | ASHG - 3 year(s) ago

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    • Join us on March 8 at 12 PM Eastern for our next webinar, "Responsible Research on Ancient DNA." @SarahTishkoff will introduce Jessica Bardill, PhD, and @RaquelFleskes, who will discuss how to apply ASHG's recommendations for responsible research. #ELSI https://t.co/dnscvgAI5u https://t.co/HyZx6RQOaT

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    To evaluate the resource implications of different delivery models for the provision of additional findings (AF) in genomics from a health-care purchaser perspective. Data from the Additional Findings study were used to develop and validate a discrete event simulation model that represented the pathway of delivering AF. Resource implications were estimated by microcosting the consultations,…

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    • Wondering about returning additional findings (secondary findings) more cost effectively? A recent study in GIM demonstrates how the cost of this service can be reduced up to 51% by implementing an automated pipeline https://t.co/kq3Vj1h2h8 #ELSI #Genetics #Genomics https://t.co/hJFAI92zzV

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    Anticipating and addressing the social implications of scientific work is a fundamental responsibility of all scientists. However, expectations for ethically sound practices can evolve over time as the implications of science come to be better understood. Contemporary researchers who work with ancient human remains, including those who conduct ancient DNA research, face precisely this challenge…

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    • ASHG has published new guidance on ethical, legal and social considerations when working on ancient DNA genetics and genomics research. You can read the article in its entirety in @AJHGNews. #ELSI #aDNA https://t.co/gxY793z2WX