Search Results - christopher+douville

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Repetitive Element Aneuploidy Sequencing Systems (REAL-SeqS)

Unmet NeedAneuploidies are chromosomal alterations that are present in the majority of cancers and associated with numerous genetic disorders. Consequently, the detection of aneuploidy in clinical samples has important applications in prenatal testing and cancer diagnostics. The current, noninvasive methods for detecting aneuploidy in clinical samples...

Published: 9/27/2024 | Inventor(s): Bert Vogelstein, Kenneth Kinzler, Christopher Douville, Nickolas Papadopoulos, Cristian Tomasetti

Keywords(s): Analytical Method, Discovery/Research Tools, In Vitro Research Tool

Category(s): Technology Classifications > Research Tools > Nucleic Acids

VEST (Variant Effect Scoring Tool)

VEST (Variant Effect Scoring Tool) is a machine learning method that predicts the pathogenicity of missense and insertion/deletion variants observed through genome sequencing, allowing them to be prioritized in subsequent functional studies.https://karchinlab.org/apps/appVest.html

Published: 9/26/2024 | Inventor(s): Rachel Karchin, Hannah Carter, Christopher Douville

Keywords(s): Computing; Calculating; Counting, Electrical Digital Data Processing, Physics

Category(s): Technology Classifications > Computers, Electronics & Software > Healthcare IT, Technology Classifications > Computers, Electronics & Software

SNVBox – UPDATE

Unmet Need In the new “post-genome” era of personalized medicine, many variants critical to disease susceptibilities and drug sensitivities will be identified and increased numbers of people will undergo genetic testing. The Karchin group is developing algorithms and tools to facilitate this process. These models are being applied to cancer genomics,...

Published: 9/26/2024 | Inventor(s): Rachel Karchin, Michael Ryan, Mark Diekhans, Hannah Carter, Christopher Douville, Rick Kim

Keywords(s): Computer and Network Systems, Computer Software, Computer Systems Based on Biological Models, Computer Systems Based on Specific Computational Models, Computer Systems Utilizing Knowledge Based Models, Computing; Calculating; Counting, Data Processing Systems or Methods, Specifically Adapted fo~, Data Processing Systems or Methods, Specifically Adapted for, Electrical Digital Data Processing, Physics

Category(s): Technology Classifications > Computers, Electronics & Software, Technology Classifications > Computers, Electronics & Software > Financial Tech, Technology Classifications > Computers, Electronics & Software > Healthcare IT, Technology Classifications > Computers, Electronics & Software > Algorithms