Search Results - "Pope, Bernard J"

Perish and publish: Dynamics of biomedical publications by deceased authors by Jung, Chol-Hee, Boutros, Paul C, Park, Daniel J, Corcoran, Niall M, Pope, Bernard J, Hovens, Christopher M

“…The question of whether it is appropriate to attribute authorship to deceased individuals of original studies in the biomedical literature is contentious…”
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Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 by Buchanan, Daniel D, Stewart, Jenna R, Clendenning, Mark, Rosty, Christophe, Mahmood, Khalid, Pope, Bernard J, Jenkins, Mark A, Hopper, John L, Southey, Melissa C, Macrae, Finlay A, Winship, Ingrid M, Win, Aung Ko

“…Background Germ-line mutations in the exonuclease domains of the POLE and POLD1 genes are associated with an increased, but yet unquantified, risk of…”
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Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics by Mahmood, Khalid, Jung, Chol-Hee, Philip, Gayle, Georgeson, Peter, Chung, Jessica, Pope, Bernard J, Park, Daniel J

“…Genetic variant effect prediction algorithms are used extensively in clinical genomics and research to determine the likely consequences of amino acid…”
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A novel Drosophila injury model reveals severed axons are cleared through a Draper/MMP-1 signaling cascade by Purice, Maria D, Ray, Arpita, Münzel, Eva Jolanda, Pope, Bernard J, Park, Daniel J, Speese, Sean D, Logan, Mary A

“…Neural injury triggers swift responses from glia, including glial migration and phagocytic clearance of damaged neurons. The transcriptional programs governing…”
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Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening by Hammet, Fleur, Mahmood, Khalid, Green, Thomas R, Nguyen-Dumont, Tu, Southey, Melissa C, Buchanan, Daniel D, Lonie, Andrew, Nathanson, Katherine L, Couch, Fergus J, Pope, Bernard J, Park, Daniel J

“…We have previously reported Hi-Plex, a multiplex PCR methodology for building targeted DNA sequencing libraries that offers a low-cost protocol compatible with…”
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A high-plex PCR approach for massively parallel sequencing by Nguyen-Dumont, Tú, Pope, Bernard J, Hammet, Fleur, Southey, Melissa C, Park, Daniel J

“…Current methods for targeted massively parallel sequencing (MPS) have several drawbacks, including limited design flexibility, expense, and protocol…”
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sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data by Jung, Chol-Hee, Park, Daniel J, Georgeson, Peter, Mahmood, Khalid, Milne, Roger L, Southey, Melissa C, Pope, Bernard J

“…DNA methylation influences predisposition, development and prognosis for many diseases, including cancer. However, it is not uncommon to encounter samples with…”
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FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine by Nguyen-Dumont, Tú, Myszka, Aleksander, Karpinski, Pawel, Sasiadek, Maria M, Akopyan, Hayane, Hammet, Fleur, Tsimiklis, Helen, Park, Daniel J, Pope, Bernard J, Slezak, Ryszard, Kitsera, Nataliya, Siekierzynska, Aleksandra, Southey, Melissa C

“…FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests…”
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Is RNASEL:p.Glu265 a modifier of early-onset breast cancer risk for carriers of high-risk mutations? by Nguyen-Dumont, Tú, Teo, Zhi L, Hammet, Fleur, Roberge, Alexis, Mahmoodi, Maryam, Tsimiklis, Helen, Park, Daniel J, Pope, Bernard J, Lonie, Andrew, Kapuscinski, Miroslav K, Mahmood, Khalid, Goldgar, David E, Giles, Graham G, Winship, Ingrid, Hopper, John L, Southey, Melissa C

“…Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk…”
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Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing by Nguyen-Dumont, Tú, Pope, Bernard J., Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Southey, Melissa C., Park, Daniel J.

“…Although per-base sequencing costs have decreased during recent years, library preparation for targeted massively parallel sequencing remains constrained by…”
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Abridged adapter primers increase the target scope of Hi-Plex by Nguyen-Dumont, Tú, Hammet, Fleur, Mahmoodi, Maryam, Pope, Bernard J, Giles, Graham G, Hopper, John L, Southey, Melissa C, Park, Daniel J

“…Previously, we reported Hi-Plex, an amplicon-based method for targeted massively parallel sequencing capable of generating 60 amplicons simultaneously. In…”
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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing by Southey, Melissa C., Dowty, James G., Riaz, Moeen, Steen, Jason A., Renault, Anne-Laure, Tucker, Katherine, Kirk, Judy, James, Paul, Winship, Ingrid, Pachter, Nicholas, Poplawski, Nicola, Grist, Scott, Park, Daniel J., Pope, Bernard J., Mahmood, Khalid, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Theys, Derrick, Rewse, Amanda, Willis, Amanda, Morrow, April, Speechly, Catherine, Harris, Rebecca, Sebra, Robert, Schadt, Eric, Lacaze, Paul, McNeil, John J., Giles, Graham G., Milne, Roger L., Hopper, John L., Nguyen-Dumont, Tú

“…Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior…”
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SRST2: Rapid genomic surveillance for public health and hospital microbiology labs by Inouye, Michael, Dashnow, Harriet, Raven, Lesley-Ann, Schultz, Mark B, Pope, Bernard J, Tomita, Takehiro, Zobel, Justin, Holt, Kathryn E

“…Rapid molecular typing of bacterial pathogens is critical for public health epidemiology, surveillance and infection control, yet routine use of whole genome…”
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Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome by Georgeson, Peter, Walsh, Michael D., Clendenning, Mark, Daneshvar, Simin, Pope, Bernard J., Mahmood, Khalid, Joo, Jihoon E., Jayasekara, Harindra, Jenkins, Mark A., Winship, Ingrid M., Buchanan, Daniel D.

“…Background Muir‐Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismatch repair (MMR) gene mutation…”
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Fine resolution mapping of double-strand break sites for human ribosomal DNA units by Pope, Bernard J., Mahmood, Khalid, Jung, Chol-hee, Park, Daniel J.

“…DNA breakage arises during a variety of biological processes, including transcription, replication and genome rearrangements. In the context of disease,…”
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Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells by Pope, Bernard J., Mahmood, Khalid, Jung, Chol-hee, Georgeson, Peter, Park, Daniel J.

“…Constitutional biological processes involve the generation of DNA double-strand breaks (DSBs). The production of such breaks and their subsequent resolution…”
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ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets by Pope, Bernard J, Nguyen-Dumont, Tú, Hammet, Fleur, Park, Daniel J

“…We recently described Hi-Plex, a highly multiplexed PCR-based target-enrichment system for massively parallel sequencing (MPS), which allows the uniform…”
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Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions by Baptista, Rodrigo P, Li, Yiran, Sateriale, Adam, Sanders, Mandy J, Brooks, Karen L, Tracey, Alan, Ansell, Brendan R E, Jex, Aaron R, Cooper, Garrett W, Smith, Ethan D, Xiao, Rui, Dumaine, Jennifer E, Georgeson, Peter, Pope, Bernard J, Berriman, Matthew, Striepen, Boris, Cotton, James A, Kissinger, Jessica C

“…Cryptosporidiosis is a leading cause of waterborne diarrheal disease globally and an important contributor to mortality in infants and the immunosuppressed…”
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Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers by Georgeson, Peter, Pope, Bernard J, Rosty, Christophe, Clendenning, Mark, Mahmood, Khalid, Joo, Jihoon E, Walker, Romy, Hutchinson, Ryan A, Preston, Susan, Como, Julia, Joseland, Sharelle, Win, Aung Ko, Macrae, Finlay A, Hopper, John L, Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M, O'Sullivan, Dylan E, Brenner, Darren R, Gallinger, Steve, Jenkins, Mark A, Winship, Ingrid M, Buchanan, Daniel D

“…Germline pathogenic variants (PVs) in the DNA mismatch repair (MMR) genes and in the base excision repair gene underlie hereditary colorectal cancer (CRC) and…”
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Rare germline genetic variants and risk of aggressive prostate cancer by Nguyen‐Dumont, Tú, MacInnis, Robert J., Steen, Jason A., Theys, Derrick, Tsimiklis, Helen, Hammet, Fleur, Mahmoodi, Maryam, Pope, Bernard J., Park, Daniel J., Mahmood, Khalid, Severi, Gianluca, Bolton, Damien, Milne, Roger L., Giles, Graham G., Southey, Melissa C.

“…Few genetic risk factors have been demonstrated to be specifically associated with aggressive prostate cancer (PrCa). Here, we report a case‐case study of PrCa…”
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