Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Sheena M. Scroggins"'
Autor:
Heather Hampel, Brian H. Shirts, Lorraine V. Naylor, Margaret Miller, Colin C. Pritchard, Sarah A. Hall, Ming K. Lee, Kathleen A. Leppig, Robin L. Bennett, Robert J. Livingston, Jonathan F. Tait, Emily H. Turner, Cathleen Goetsch, Suleyman Gulsuner, Tom Walsh, Sheena M. Scroggins, Silvia Casadei, Mary Claire King, Stephen J. Salipante, Angela Jacobson, Fuki M. Hisama
Publikováno v:
Genetics in Medicine. 18:974-981
Screening multiple genes for inherited cancer predisposition expands opportunities for cancer prevention; however, reports of variants of uncertain significance (VUS) may limit clinical usefulness. We used an expert-driven approach, exploiting all av
Publikováno v:
The Journal of Molecular Diagnostics. 17:705-714
Molecular analysis of colon cancers currently requires multiphasic testing that uses various assays with different performance characteristics, adding cost and time to patient care. We have developed a single, next-generation sequencing assay to simu
Autor:
Colin C. Pritchard, Sheena M. Scroggins, Stephen J. Salipante, Heather Hampel, Emily H. Turner
Publikováno v:
Clinical Chemistry. 60:1192-1199
BACKGROUND Microsatellite instability (MSI) is a useful phenotype in cancer diagnosis and prognosis. Nevertheless, methods to detect MSI status from next generation DNA sequencing (NGS) data are underdeveloped. METHODS We developed an approach to det
Autor:
Tom Walsh, Silvia Casadei, Mary Claire King, Sheena M. Scroggins, Colin C. Pritchard, Maria I. Harrell, Ming K. Lee, Barbara M. Norquist, C. Pennil, Kathryn P. Pennington, Rochelle L. Garcia, Kathy Agnew, Alexander Nord, Mara H. Rendi, Anne M. Thornton, Elizabeth M. Swisher
Publikováno v:
Clinical cancer research : an official journal of the American Association for Cancer Research, vol 20, iss 3
Purpose: Hallmarks of germline BRCA1/2-associated ovarian carcinomas include chemosensitivity and improved survival. The therapeutic impact of somatic BRCA1/2 mutations and mutations in other homologous recombination DNA repair genes is uncertain. Ex
Autor:
Colin C. Pritchard, Emily H. Turner, Noah G. Hoffman, Stephen J. Salipante, Patrick C. Mathias, Brian H. Shirts, Sheena M. Scroggins
Publikováno v:
American journal of clinical pathology. 145(3)
Objectives: To apply techniques for ancestry and sex computation from next-generation sequencing (NGS) data as an approach to confirm sample identity and detect sample processing errors. Methods: We combined a principal component analysis method with
Autor:
Colin C. Pritchard, Cheryl A. Mather, Stephen J. Salipante, Brian H. Shirts, David Wu, Sheena M. Scroggins, Sean D. Mooney
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Several in silico tools have been shown to have reasonable research sensitivity and specificity for classifying sequence variants in coding regions. The recently developed combined annotation-dependent depletion (CADD) method generates predictive sco
Autor:
Emily H. Turner, Sheena M. Scroggins, Mallory Beightol, Paul J. Goodfellow, Christina Smith, Heather Hampel, Rachel Pearlman, Albert de la Chapelle, William M. Grady, Edward H. Lin, Mark Arnold, Jonathan F. Tait, Stacey A. Cohen, Colin C. Pritchard, David E. Cohn, Ted Gooley, Sigurdis Haraldsdottir, Stephen J. Salipante, Angela Jacobson
Publikováno v:
Gastroenterology. 151:440-447.e1
Background & Aims Some colorectal and endometrial tumors with microsatellite instability not attributable to MLH1 hypermethylation or germline mutations contain 2 or more somatic mutations in genes encoding mismatch repair (MMR) proteins. We sought t
Autor:
Sheena M. Scroggins, Jill A. Franzosa, Tamara Tal, Katrina M. Waters, Susan C. Tilton, Elena S. Peterson, Robert L. Tanguay
Publikováno v:
BMC Bioinformatics
BMC Bioinformatics, Vol 13, Iss 1, p 311 (2012)
BMC Bioinformatics, Vol 13, Iss 1, p 311 (2012)
Background MicroRNAs (miRNAs) are noncoding RNAs that direct post-transcriptional regulation of protein coding genes. Recent studies have shown miRNAs are important for controlling many biological processes, including nervous system development, and
Autor:
Brent L. Wood, Andrew Adey, Jane E. Churpek, Karen M. Koehler, Noah G. Hoffman, Tom Walsh, Yajuan Liu, Colin C. Pritchard, Jonathan F. Tait, Kim Margolin, Stephen J. Salipante, Sheena M. Scroggins, David Wu, Ming K. Lee, Christina Smith, Suzanne M. Dintzis, Keith D. Eaton, Mary Claire King, Renato G. Martins, Kari Stricker
Publikováno v:
The Journal of Molecular Diagnostics. (1):56-67
Recent years have seen development and implementation of anticancer therapies targeted to particular gene mutations, but methods to assay clinical cancer specimens in a comprehensive way for the critical mutations remain underdeveloped. We have devel