Similarity-based gene detection: using COGs to find evolutionarily-conserved ORFs

por Powell, Bradford C, Hutchison, Clyde A
Publicado 2006

Tracking the evolution of alternatively spliced exons within the Dscam family

por Crayton, Mack E, Powell, Bradford C, Vision, Todd J, Giddings, Morgan C
Publicado 2006

Establishing the Medical Actionability of Genomic Variants

por Goddard, Katrina A.B., Lee, Kristy, Buchanan, Adam H., Powell, Bradford C., Hunter, Jessica Ezzell
Publicado 2022

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

por Kanavy, Dona M., McNulty, Shannon M., Jairath, Meera K., Brnich, Sarah E., Bizon, Chris, Powell, Bradford C., Berg, Jonathan S.
Publicado 2019

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

por DeCristo, Daniela M., Milko, Laura V., O’Daniel, Julianne M., Foreman, Ann Katherine M., Mollison, Lonna F., Powell, Bradford C., Powell, Cynthia M., Berg, Jonathan S.
Publicado 2021

Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized...

por Milko, Laura V., Rini, Christine, Lewis, Megan A., Butterfield, Rita M., Lin, Feng-Chang, Paquin, Ryan S., Powell, Bradford C., Roche, Myra I., Souris, Katherine J., Bailey, Donald B., Berg, Jonathan S., Powell, Cynthia M.
Publicado 2018

The who, what and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

por Rini, Christine, Khan, Cynthia M., Moore, Elizabeth, Roche, Myra I., Evans, James P., Berg, Jonathan S., Powell, Bradford C., Corbie-Smith, Giselle, Foreman, Ann Katherine M., Griesemer, Ida, Lee, Kristy, O’Daniel, Julianne M., Henderson, Gail E.
Publicado 2017

Factors influencing NCGENES research participants’ requests for non-medically actionable secondary findings

por Roche, Myra I., Griesemer, Ida, Khan, Cynthia M., Moore, Elizabeth, Lin, Feng-Chang, O’Daniel, Julianne M., Foreman, Ann Katherine M., Lee, Kristy, Powell, Bradford C., Berg, Jonathan S., Evans, James P., Henderson, Gail E., Rini, Christine
Publicado 2018

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

por Filer, Dayne L., Kuo, Fengshen, Brandt, Alicia T., Tilley, Christian R., Mieczkowski, Piotr A., Berg, Jonathan S., Robasky, Kimberly, Li, Yun, Bizon, Chris, Tilson, Jeffery L., Powell, Bradford C., Bost, Darius M., Jeffries, Clark D., Wilhelmsen, Kirk C.
Publicado 2021

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

por Bowling, Kevin M., Thompson, Michelle L., Kelly, Melissa A., Scollon, Sarah, Slavotinek, Anne M., Powell, Bradford C., Kirmse, Brian M., Hendon, Laura G., Brothers, Kyle B., Korf, Bruce R., Cooper, Gregory M., Greally, John M., Hurst, Anna C. E.
Publicado 2022

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Seq...

por Staley, Brooke S., Milko, Laura V., Waltz, Margaret, Griesemer, Ida, Mollison, Lonna, Grant, Tracey L., Farnan, Laura, Roche, Myra, Navas, Angelo, Lightfoot, Alexandra, Foreman, Ann Katherine M., O’Daniel, Julianne M., O’Neill, Suzanne C., Lin, Feng-Chang, Roman, Tamara S., Brandt, Alicia, Powell, Bradford C., Rini, Christine, Berg, Jonathan S., Bensen, Jeannette T.
Publicado 2021

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

por Berg, Jonathan S., Foreman, Ann Katherine M., O'Daniel, Julianne M., Booker, Jessica K., Boshe, Lacey, Carey, Timothy, Crooks, Kristy R., Jensen, Brian C., Juengst, Eric T., Lee, Kristy, Nelson, Daniel K., Powell, Bradford C., Powell, Cynthia M., Roche, Myra I., Skrzynia, Cecile, Strande, Natasha T., Weck, Karen E., Wilhelmsen, Kirk C., Evans, James P.
Publicado 2016

Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience

por Muenzen, Kathleen D., Amendola, Laura M., Kauffman, Tia L., Mittendorf, Kathleen F., Bensen, Jeannette T., Chen, Flavia, Green, Richard, Powell, Bradford C., Kvale, Mark, Angelo, Frank, Farnan, Laura, Fullerton, Stephanie M., Robinson, Jill O., Li, Tianran, Murali, Priyanka, Lawlor, James M.J., Ou, Jeffrey, Hindorff, Lucia A., Jarvik, Gail P., Crosslin, David R.
Publicado 2022

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

por Sanghvi, Rashesh V., Buhay, Christian J., Powell, Bradford C., Tsai, Ellen A., Dorschner, Michael O., Hong, Celine S., Lebo, Matthew S., Sasson, Ariella, Hanna, David S., McGee, Sean, Bowling, Kevin M., Cooper, Gregory M., Gray, David E., Lonigro, Robert J., Dunford, Andrew, Brennan, Christine A., Cibulskis, Carrie, Walker, Kimberly, Carneiro, Mauricio O., Sailsbery, Joshua, Hindorff, Lucia A., Robinson, Dan R., Santani, Avni, Sarmady, Mahdi, Rehm, Heidi L., Biesecker, Leslie G., Nickerson, Deborah A., Hutter, Carolyn M., Garraway, Levi, Muzny, Donna M., Wagle, Nikhil
Publicado 2017

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

por Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N., Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S., Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K., Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M., Seitz, Barbara, Robin, Nathaniel H., Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F. Lucy, Gilmore, Kelly, Powell, Bradford C., Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T., Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L., Davis, Erica E., Burdine, Rebecca, Bhoj, Elizabeth
Publicado 2023