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Thiffault, Isabelle
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research overview
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As the Director of Translational Genetics of the GMC, I had the opportunity to help shape the design of our program, including the bioinformatic tools used by our analysis team. These tools facilitated the implementation of rapid whole genome sequencing for acutely ill infants in our hospital. The analysis and interpretation of the genomes of the enrolled patients were co-led by me. This work led to a landmark proof-of-concept "STATSeq," a concept many labs have subsequently begun to emulate, albeit through exome sequencing. The GMC, our Genomic Answers for Kids (GA4K, https://www.childrensmercy.org/childrens-mercy-research-institute/studies-and-trials/genomic-answers-for-kids/) program is changing the landscape of pediatric genomics through what may be the most advanced system for rare disease diagnosis in the world. We have recruited over 10k individuals (>4.5 families) and surpassed 1,000 rare diagnoses through our groundbreaking work—far out-pacing other rare disease research programs—and continue to conduct cutting-edge science that has led to several “firsts” in the field of genomics research. We have produced more than 1,500 genomes through a state-of-the-art technique called HiFi sequencing (long read), the first to use 5-base sequencing. Following our research initiative, we recently completed the clinical validation of HiFi sequencing (long read) genome sequencing, and we are the first center offering it as clinical genomic testing for critically ill patients. I have subsequently published over 140 peer-reviewed articles and reviewed >50 scientific manuscripts. I have over 2870 citations and an h-index of 29.
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Thiffault, Isabelle