Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells

por Pope, Bernard J., Mahmood, Khalid, Jung, Chol-hee, Georgeson, Peter, Park, Daniel J.
Publicado 2016

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing

por Park, Daniel J., Li, Roger, Lau, Edmund, Georgeson, Peter, Nguyen-Dumont, Tú, Pope, Bernard J.
Publicado 2016

Annotation of the Giardia proteome through structure-based homology and machine learning

por Ansell, Brendan R E, Pope, Bernard J, Georgeson, Peter, Emery-Corbin, Samantha J, Jex, Aaron R
Publicado 2018

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

por Mahmood, Khalid, Jung, Chol-hee, Philip, Gayle, Georgeson, Peter, Chung, Jessica, Pope, Bernard J., Park, Daniel J.
Publicado 2017

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

por Jung, Chol-Hee, Park, Daniel J., Georgeson, Peter, Mahmood, Khalid, Milne, Roger L., Southey, Melissa C., Pope, Bernard J.
Publicado 2018

Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software

por Georgeson, Peter, Syme, Anna, Sloggett, Clare, Chung, Jessica, Dashnow, Harriet, Milton, Michael, Lonsdale, Andrew, Powell, David, Seemann, Torsten, Pope, Bernard
Publicado 2019

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

por 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.
Publicado 2019

A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report

por Walker, Romy, Clendenning, Mark, Joo, Jihoon E., Xue, Jessie, Mahmood, Khalid, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Chan, James M., Jenkins, Mark A., Rosty, Christophe, Macrae, Finlay A., Di Palma, Stephanie, Campbell, Ainsley, Winship, Ingrid M., Buchanan, Daniel D.
Publicado 2023

Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends in...

por 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.
Publicado 2022

DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer

por Joo, Jihoon E., Clendenning, Mark, Wong, Ee Ming, Rosty, Christophe, Mahmood, Khalid, Georgeson, Peter, Winship, Ingrid M., Preston, Susan G., Win, Aung Ko, Dugué, Pierre-Antoine, Jayasekara, Harindra, English, Dallas, Macrae, Finlay A., Hopper, John L., Jenkins, Mark A., Milne, Roger L., Giles, Graham G., Southey, Melissa C., Buchanan, Daniel D.
Publicado 2021

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

por Walsh, Maie, Bell, Katrina M., Chong, Belinda, Creed, Emma, Brett, Gemma R., Pope, Kate, Thorne, Natalie P., Sadedin, Simon, Georgeson, Peter, Phelan, Dean G., Day, Timothy, Taylor, Jessica A., Sexton, Adrienne, Lockhart, Paul J., Kiers, Lynette, Fahey, Michael, Macciocca, Ivan, Gaff, Clara L., Oshlack, Alicia, Yiu, Eppie M., James, Paul A., Stark, Zornitza, Ryan, Monique M.
Publicado 2017

Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling...

por Joo, Jihoon E., Mahmood, Khalid, Walker, Romy, Georgeson, Peter, Candiloro, Ida, Clendenning, Mark, Como, Julia, Joseland, Sharelle, Preston, Susan, Graversen, Lise, Wilding, Mathilda, Field, Michael, Lemon, Michelle, Wakeling, Janette, Marfan, Helen, Susman, Rachel, Isbister, Joanne, Edwards, Emma, Bowman, Michelle, Kirk, Judy, Ip, Emilia, McKay, Lynne, Antill, Yoland, Hopper, John L., Boussioutas, Alex, Macrae, Finlay A., Dobrovic, Alexander, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.
Publicado 2023

DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands

por Walker, Romy, Mahmood, Khalid, Como, Julia, Clendenning, Mark, Joo, Jihoon E., Georgeson, Peter, Joseland, Sharelle, Preston, Susan G., Pope, Bernard J., Chan, James M., Austin, Rachel, Bojadzieva, Jasmina, Campbell, Ainsley, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Ip, Emilia, Kirk, Judy, Mansour, Julia, Mar Fan, Helen, Nichols, Cassandra, Pachter, Nicholas, Ragunathan, Abiramy, Spigelman, Allan, Susman, Rachel, Christie, Michael, Jenkins, Mark A., Pai, Rish K., Rosty, Christophe, Macrae, Finlay A., Winship, Ingrid M., Buchanan, Daniel D.
Publicado 2023

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

por Walker, Romy, Mahmood, Khalid, Joo, Jihoon E., Clendenning, Mark, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Antill, Yoland, Austin, Rachel, Boussioutas, Alex, Bowman, Michelle, Burke, Jo, Campbell, Ainsley, Daneshvar, Simin, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Henderson, Alex, Higgins, Megan, Hopper, John L., Hutchinson, Ryan A., Ip, Emilia, Isbister, Joanne, Kasem, Kais, Marfan, Helen, Milnes, Di, Ng, Annabelle, Nichols, Cassandra, O’Connell, Shona, Pachter, Nicholas, Pope, Bernard J., Poplawski, Nicola, Ragunathan, Abiramy, Smyth, Courtney, Spigelman, Allan, Storey, Kirsty, Susman, Rachel, Taylor, Jessica A., Warwick, Linda, Wilding, Mathilda, Williams, Rachel, Win, Aung K., Walsh, Michael D., Macrae, Finlay A., Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.
Publicado 2023

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

por Walker, Romy, Mahmood, Khalid, Joo, Jihoon E., Clendenning, Mark, Georgeson, Peter, Como, Julia, Joseland, Sharelle, Preston, Susan G., Antill, Yoland, Austin, Rachel, Boussioutas, Alex, Bowman, Michelle, Burke, Jo, Campbell, Ainsley, Daneshvar, Simin, Edwards, Emma, Gleeson, Margaret, Goodwin, Annabel, Harris, Marion T., Henderson, Alex, Higgins, Megan, Hopper, John L., Hutchinson, Ryan A., Ip, Emilia, Isbister, Joanne, Kasem, Kais, Marfan, Helen, Milnes, Di, Ng, Annabelle, Nichols, Cassandra, O’Connell, Shona, Pachter, Nicholas, Pope, Bernard J., Poplawski, Nicola, Ragunathan, Abiramy, Smyth, Courtney, Spigelman, Allan, Storey, Kirsty, Susman, Rachel, Taylor, Jessica A., Warwick, Linda, Wilding, Mathilda, Williams, Rachel, Win, Aung K., Walsh, Michael D., Macrae, Finlay A., Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.
Publicado 2023

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

por Georgeson, Peter, Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Steinfelder, Robert S., Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Amitay, Efrat L., Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Gsur, Andrea, Gunter, Marc J., Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Limburg, Paul, Manson, JoAnn E., Moreno, Victor, Nassir, Rami, Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Phipps, Amanda I., Potter, John D., Schoen, Robert E., Sun, Wei, Toland, Amanda E., Trinh, Quang M., Ugai, Tomotaka, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Jenkins, Mark A., Thibodeau, Stephen N., Winship, Ingrid M., Peters, Ulrike, Buchanan, Daniel D.
Publicado 2022

Body mass index and molecular subtypes of colorectal cancer

por Murphy, Neil, Newton, Christina C, Song, Mingyang, Papadimitriou, Nikos, Hoffmeister, Michael, Phipps, Amanda I, Harrison, Tabitha A, Newcomb, Polly A, Aglago, Elom K, Berndt, Sonja I, Brenner, Hermann, Buchanan, Daniel D, Cao, Yin, Chan, Andrew T, Chen, Xuechen, Cheng, Iona, Chang-Claude, Jenny, Dimou, Niki, Drew, David, Farris, Alton B, French, Amy J, Gallinger, Steven, Georgeson, Peter, Giannakis, Marios, Giles, Graham G, Gruber, Stephen B, Harlid, Sophia, Hsu, Li, Huang, Wen-Yi, Jenkins, Mark A, Laskar, Ruhina S, Le Marchand, Loic, Limburg, Paul, Lin, Yi, Mandic, Marko, Nowak, Johnathan A, Obón-Santacana, Mereia, Ogino, Shuji, Qu, Conghui, Sakoda, Lori C, Schoen, Robert E, Southey, Melissa C, Stadler, Zsofia K, Steinfelder, Robert S, Sun, Wei, Thibodeau, Stephen N, Toland, Amanda E, Trinh, Quang M, Tsilidis, Kostas K, Ugai, Tomotaka, Van Guelpen, Bethany, Wang, Xiaoliang, Woods, Michael O, Zaidi, Syed H, Gunter, Marc J, Peters, Ulrike, Campbell, Peter T
Publicado 2022

Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival

por Georgeson, Peter, Steinfelder, Robert S., Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Aglago, Elom K, Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Dimou, Niki, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Goode, Ellen L, Gruber, Stephen B, Gsur, Andrea, Gunter, Marc J., Harlid, Sophia, Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Huyghe, Jeroen R, Manson, JoAnn E., Moreno, Victor, Murphy, Neil, Nassir, Rami, Newton, Christina C., Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Pai, Rish K., Papadimitrou, Nikos, Potter, John D., Schoen, Robert E., Song, Mingyang, Sun, Wei, Toland, Amanda E., Trinh, Quang M., Tsilidis, Kostas, Ugai, Tomotaka, Um, Caroline Y, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Winship, Ingrid M., Phipps, Amanda I., Jenkins, Mark A., Peters, Ulrike, Buchanan, Daniel D.
Publicado 2023

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival

por Zaidi, Syed H., Harrison, Tabitha A., Phipps, Amanda I., Steinfelder, Robert, Trinh, Quang M., Qu, Conghui, Banbury, Barbara L., Georgeson, Peter, Grasso, Catherine S., Giannakis, Marios, Adams, Jeremy B., Alwers, Elizabeth, Amitay, Efrat L., Barfield, Richard T., Berndt, Sonja I., Borozan, Ivan, Brenner, Hermann, Brezina, Stefanie, Buchanan, Daniel D., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Connolly, Charles M., Drew, David A., Farris, Alton Brad, Figueiredo, Jane C., French, Amy J., Fuchs, Charles S., Garraway, Levi A., Gruber, Steve, Guinter, Mark A., Hamilton, Stanley R., Harlid, Sophia, Heisler, Lawrence E., Hidaka, Akihisa, Hopper, John L., Huang, Wen-Yi, Huyghe, Jeroen R., Jenkins, Mark A., Krzyzanowski, Paul M., Lemire, Mathieu, Lin, Yi, Luo, Xuemei, Mardis, Elaine R., McPherson, John D., Miller, Jessica K., Moreno, Victor, Mu, Xinmeng Jasmine, Nishihara, Reiko, Papadopoulos, Nickolas, Pasternack, Danielle, Quist, Michael J., Rafikova, Adilya, Reid, Emma E. G., Shinbrot, Eve, Shirts, Brian H., Stein, Lincoln D., Teney, Cherie D., Timms, Lee, Um, Caroline Y., Van Guelpen, Bethany, Van Tassel, Megan, Wang, Xiaolong, Wheeler, David A., Yung, Christina K., Hsu, Li, Ogino, Shuji, Gsur, Andrea, Newcomb, Polly A., Gallinger, Steven, Hoffmeister, Michael, Campbell, Peter T., Thibodeau, Stephen N., Sun, Wei, Hudson, Thomas J., Peters, Ulrike
Publicado 2020