ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets

Por Pope, Bernard J, Nguyen-Dumont, Tú, Hammet, Fleur, Park, Daniel J
Publicado em 2014

Fine resolution mapping of double-strand break sites for human ribosomal DNA units

Por Pope, Bernard J., Mahmood, Khalid, Jung, Chol-hee, Park, Daniel J.
Publicado no Genom Data (2016)

Annokey: an annotation tool based on key term search of the NCBI Entrez Gene database

Por Park, Daniel J, Nguyen-Dumont, Tú, Kang, Sori, Verspoor, Karin, Pope, Bernard J
Publicado em 2014

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 no Genom Data (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 no BMC Bioinformatics (2016)

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing

Por Nguyen-Dumont, Tú, Pope, Bernard J., Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Southey, Melissa C., Park, Daniel J.
Publicado em 2013

SRST2: Rapid genomic surveillance for public health and hospital microbiology labs

Por Inouye, Michael, Dashnow, Harriet, Raven, Lesley-Ann, Schultz, Mark B, Pope, Bernard J, Tomita, Takehiro, Zobel, Justin, Holt, Kathryn E
Publicado no Genome Med (2014)

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets

Por Pope, Bernard J, Nguyen-Dumont, Tú, Odefrey, Fabrice, Hammet, Fleur, Bell, Russell, Tao, Kayoko, Tavtigian, Sean V, Goldgar, David E, Lonie, Andrew, Southey, Melissa C, Park, Daniel J
Publicado em 2013

MethPat: a tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing

Por Wong, Nicholas C., Pope, Bernard J., Candiloro, Ida L., Korbie, Darren, Trau, Matt, Wong, Stephen Q., Mikeska, Thomas, Zhang, Xinmin, Pitman, Mark, Eggers, Stefanie, Doyle, Stephen R., Dobrovic, Alexander
Publicado no BMC Bioinformatics (2016)

Exemplary multiplex bisulfite amplicon data used to demonstrate the utility of Methpat

Por Wong, Nicholas C., Pope, Bernard J., Candiloro, Ida, Korbie, Darren, Trau, Matt, Wong, Stephen Q., Mikeska, Thomas, van Denderen, Bryce J. W., Thompson, Erik W., Eggers, Stefanie, Doyle, Stephen R., Dobrovic, Alexander
Publicado no Gigascience (2015)

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

Por Nguyen-Dumont, Tú, Teo, Zhi L, Pope, Bernard J, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Sabbaghian, Nelly, Tischkowitz, Marc, Foulkes, William D, Giles, Graham G, Hopper, John L, Southey, Melissa C, Park, Daniel J
Publicado em 2013

MYRF Is a Membrane-Associated Transcription Factor That Autoproteolytically Cleaves to Directly Activate Myelin Genes

Por Bujalka, Helena, Koenning, Matthias, Jackson, Stacey, Perreau, Victoria M., Pope, Bernard, Hay, Curtis M., Mitew, Stanlislaw, Hill, Andrew F., Lu, Q. Richard, Wegner, Michael, Srinivasan, Rajini, Svaren, John, Willingham, Melanie, Barres, Ben A., Emery, Ben
Publicado em 2013

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry

Por Nguyen-Dumont, Tú, Hammet, Fleur, Mahmoodi, Maryam, Tsimiklis, Helen, Teo, Zhi L., Li, Roger, Pope, Bernard J., Terry, Mary Beth, Buys, Saundra S., Daly, Mary, Hopper, John L., Winship, Ingrid, Goldgar, David E., Park, Daniel J., Southey, Melissa C.
Publicado no Breast Cancer Res Treat (2015)

Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers

Por Park, Daniel J., Tao, Kayoko, Le Calvez-Kelm, Florence, Nguyen-Dumont, Tu, Robinot, Nivonirina, Hammet, Fleur, Odefrey, Fabrice, Tsimiklis, Helen, Teo, Zhi L., Thingholm, Louise B., Young, Erin L., Voegele, Catherine, Lonie, Andrew, Pope, Bernard J., Roane, Terrell C., Bell, Russell, Hu, Hao, Shankaracharya, Huff, Chad D., Ellis, Jonathan, Li, Jun, Makunin, Igor V., John, Esther M., Andrulis, Irene L., Terry, Mary B., Daly, Mary, Buys, Saundra S., Snyder, Carrie, Lynch, Henry T., Devilee, Peter, Giles, Graham G., Hopper, John L., Feng, Bing J., Lesueur, Fabienne, Tavtigian, Sean V., Southey, Melissa C., Goldgar, David E.
Publicado no Cancer Discov (2014)