Rezultaty - Colin C. Pritchard
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Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations od Sigurdís Haraldsdóttir, Heather Hampel, Jerneja Tomšič, Wendy L. Frankel, Rachel Pearlman, Albert de la Chapelle, Colin C. Pritchard
Wydane 2014Artigo -
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CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel od Cheryl Mather, Sean D. Mooney, Stephen J. Salipante, Sheena Scroggins, David Wu, Colin C. Pritchard, Brian H. Shirts
Wydane 2016Artigo -
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Accurate Pan-Cancer Molecular Diagnosis of Microsatellite Instability by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing od Adam Waalkes, Nahum Smith, Kelsi Penewit, Jennifer A. Hempelmann, Eric Q. Konnick, Ronald J. Hause, Colin C. Pritchard, Stephen J. Salipante
Wydane 2018Artigo -
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Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency od Rachel Pearlman, Michael J. Markow, Deborah A. Knight, Wei Chen, Christina A. Arnold, Colin C. Pritchard, Heather Hampel, Wendy L. Frankel
Wydane 2018Artigo
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Biology
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Internal medicine
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Germline mutation
Computational biology
Colorectal cancer
Pathology
DNA mismatch repair
Bioinformatics
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Lynch syndrome
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Gynecology
MLH1
DNA
MSH2
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