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Kelsy C. Cotto on Muck Rack

Kelsy C. Cotto

As seen in: Nature, BioRxiv
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Articles

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer - Nature Communications

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By Kelsy C. Cotto, Yang-Yang Feng, Megan M. Richters, Huiming Xia, Joshua F. McMichael, Katie Campbell Verified, Yiing Lin, Christopher A. Maher, Vivek Arora, Ravindra Uppaluri, Ramaswamy Govindan, Obi L. Griffith
| Nature Verified
Abstract Somatic mutations within non-coding regions and even exons may have unidentified regulatory consequences that are often overlooked in analysis workflows. Here we present RegTools (www.regtools.org), a computationally efficient, free, and open-source software package designed to integrate somatic variants from genomic data with splice junctions from bulk or single cell transcriptomic data to identify variants that may cause aberrant splicing.
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RegTools: Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer

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By Kelsy C. Cotto, Yang-Yang Feng, Avinash Ramu, Megan M. Richters
| BioRxiv
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A community approach to the cancer-variant-interpretation bottleneck - Nature Cancer

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By Kilannin Krysiak, Arpad M. Danos, Joshua F. McMichael, Adam Coffman, Peter Horak, Benjamin J. Ainscough, Alex Marr, Rashmi Kanagal-Shamanna, Jason Walker, Jinghui Zhang, Lynn M Schriml, Elaine R. Mardis, Malachi Griffith, Cameron J. Grisdale, Sean Delong, Jianling Ji, Kelsy C. Cotto, Katie Campbell Verified
| Nature Verified
As guidelines, therapies and literature on cancer variants expand, the lack of consensus variant interpretations impedes clinical applications. CIViC is a public-domain, crowd-sourced and adaptable knowledgebase of evidence for the clinical interpretation of variants in cancer, designed to reduce barriers to knowledge sharing and alleviate the variant-interpretation bottleneck. The demands of genetics-based clinical decision-making in cancer are steadily increasing.
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