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51. Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3Mutation

Author

Blatt, Julie, Parekh, Preeti, Powell, Bradford C., Fedoriw, Yuri, Reddy, Indira, and Montgomery, Nathan D.

Abstract

Rosai-Dorfman disease (RDD) typically presents as bulky lymphadenopathy. Somatic mutations in RAS/MAP kinase pathway genes are common but germline mutations are rare. A patient with RDD and exocrine pancreatic insufficiency was found to have a homozygous germline mutation in SLC29A3, which has been associated with the Histiocytosis/Lymphadenopathy Plus Syndrome. His RDD also was positive for a somatic mutation in lymphoid enhancer binding factor 1 (LEF1). The concurrence of RDD and pancreatic insufficiency should raise consideration of SLC29A3mutations. Other cases will be needed to confirm this observation and a possible contribution of LEF1to the development of RDD.

Published
2024
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52. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Author

Green, Robert C., primary, Goddard, Katrina A.B., additional, Jarvik, Gail P., additional, Amendola, Laura M., additional, Appelbaum, Paul S., additional, Berg, Jonathan S., additional, Bernhardt, Barbara A., additional, Biesecker, Leslie G., additional, Biswas, Sawona, additional, Blout, Carrie L., additional, Bowling, Kevin M., additional, Brothers, Kyle B., additional, Burke, Wylie, additional, Caga-anan, Charlisse F., additional, Chinnaiyan, Arul M., additional, Chung, Wendy K., additional, Clayton, Ellen W., additional, Cooper, Gregory M., additional, East, Kelly, additional, Evans, James P., additional, Fullerton, Stephanie M., additional, Garraway, Levi A., additional, Garrett, Jeremy R., additional, Gray, Stacy W., additional, Henderson, Gail E., additional, Hindorff, Lucia A., additional, Holm, Ingrid A., additional, Lewis, Michelle Huckaby, additional, Hutter, Carolyn M., additional, Janne, Pasi A., additional, Joffe, Steven, additional, Kaufman, David, additional, Knoppers, Bartha M., additional, Koenig, Barbara A., additional, Krantz, Ian D., additional, Manolio, Teri A., additional, McCullough, Laurence, additional, McEwen, Jean, additional, McGuire, Amy, additional, Muzny, Donna, additional, Myers, Richard M., additional, Nickerson, Deborah A., additional, Ou, Jeffrey, additional, Parsons, Donald W., additional, Petersen, Gloria M., additional, Plon, Sharon E., additional, Rehm, Heidi L., additional, Roberts, J. Scott, additional, Robinson, Dan, additional, Salama, Joseph S., additional, Scollon, Sarah, additional, Sharp, Richard R., additional, Shirts, Brian, additional, Spinner, Nancy B., additional, Tabor, Holly K., additional, Tarczy-Hornoch, Peter, additional, Veenstra, David L., additional, Wagle, Nikhil, additional, Weck, Karen, additional, Wilfond, Benjamin S., additional, Wilhelmsen, Kirk, additional, Wolf, Susan M., additional, Wynn, Julia, additional, Yu, Joon-Ho, additional, Amaral, Michelle, additional, Amendola, Laura, additional, Aronson, Samuel J., additional, Arora, Shubhangi, additional, Azzariti, Danielle R., additional, Barsh, Greg S., additional, Bebin, E.M., additional, Biesecker, Barbara B., additional, Brown, Brian L., additional, Burt, Amber A., additional, Byers, Peter H., additional, Calikoglu, Muge G., additional, Carlson, Sara J., additional, Chahin, Nizar, additional, Christensen, Kurt D., additional, Chung, Wendy, additional, Cirino, Allison L., additional, Clayton, Ellen, additional, Conlin, Laura K., additional, Cooper, Greg M., additional, Crosslin, David R., additional, Davis, James V., additional, Davis, Kelly, additional, Deardorff, Matthew A., additional, Devkota, Batsal, additional, De Vries, Raymond, additional, Diamond, Pamela, additional, Dorschner, Michael O., additional, Dugan, Noreen P., additional, Dukhovny, Dmitry, additional, Dulik, Matthew C., additional, East, Kelly M., additional, Rivera-Munoz, Edgar A., additional, Evans, Barbara, additional, Everett, Jessica, additional, Exe, Nicole, additional, Fan, Zheng, additional, Feuerman, Lindsay Z., additional, Filipski, Kelly, additional, Finnila, Candice R., additional, Fishler, Kristen, additional, Ghrundmeier, Bob, additional, Giles, Karen, additional, Gilmore, Marian J., additional, Girnary, Zahra S., additional, Goddard, Katrina, additional, Gonsalves, Steven, additional, Gordon, Adam S., additional, Gornick, Michele C., additional, Grady, William M., additional, Gray, David E., additional, Green, Robert, additional, Greenwood, Robert S., additional, Gutierrez, Amanda M., additional, Han, Paul, additional, Hart, Ragan, additional, Heagerty, Patrick, additional, Hensman, Naomi, additional, Hiatt, Susan M., additional, Himes, Patricia, additional, Hisama, Fuki M., additional, Ho, Carolyn Y., additional, Hoffman-Andrews, Lily B., additional, Hong, Celine, additional, Horike-Pyne, Martha J., additional, Hull, Sara, additional, Jamal, Seema, additional, Jensen, Brian C., additional, Joffe, Steve, additional, Johnston, Jennifer, additional, Karavite, Dean, additional, Kauffman, Tia L., additional, Kaufman, Dave, additional, Kelley, Whitley, additional, Kim, Jerry H., additional, Kirby, Christine, additional, Klein, William, additional, Knoppers, Bartha, additional, Kong, Sek Won, additional, Krantz, Ian, additional, Krier, Joel B., additional, Lamb, Neil E., additional, Lambert, Michele P., additional, Le, Lan Q., additional, Lebo, Matthew S., additional, Lee, Alexander, additional, Lee, Kaitlyn B., additional, Lennon, Niall, additional, Leo, Michael C., additional, Leppig, Kathleen A., additional, Lewis, Katie, additional, Lewis, Michelle, additional, Lindeman, Neal I., additional, Lockhart, Nicole, additional, Lonigro, Bob, additional, Lose, Edward J., additional, Lupo, Philip J., additional, Rodriguez, Laura Lyman, additional, Lynch, Frances, additional, Machini, Kalotina, additional, MacRae, Calum, additional, Marchuk, Daniel S., additional, Martinez, Josue N., additional, Masino, Aaron, additional, McLaughlin, Heather M., additional, McMullen, Carmit, additional, Mieczkowski, Piotr A., additional, Miller, Jeff, additional, Miller, Victoria A., additional, Mody, Rajen, additional, Mooney, Sean D., additional, Moore, Elizabeth G., additional, Morris, Elissa, additional, Murray, Michael, additional, Ng, David, additional, Oliver, Nelly M., additional, Parsons, Will, additional, Patrick, Donald L., additional, Pennington, Jeffrey, additional, Perry, Denise L., additional, Petersen, Gloria, additional, Plon, Sharon, additional, Porter, Katie, additional, Powell, Bradford C., additional, Punj, Sumit, additional, Breitkopf, Carmen Radecki, additional, Raesz-Martinez, Robin A., additional, Raskind, Wendy H., additional, Reigar, Dean A., additional, Reiss, Jacob A., additional, Rich, Carla A., additional, Richards, Carolyn Sue, additional, Rini, Christine, additional, Roberts, Scott, additional, Robertson, Peggy D., additional, Robinson, Jill O., additional, Robinson, Marguerite E., additional, Roche, Myra I., additional, Romasko, Edward J., additional, Rosenthal, Elisabeth A., additional, Salama, Joseph, additional, Scarano, Maria I., additional, Schneider, Jennifer, additional, Seidman, Christine E., additional, Seifert, Bryce A., additional, Shirts, Brian H., additional, Sholl, Lynette M., additional, Siddiqui, Javed, additional, Silverman, Elian, additional, Simmons, Shirley, additional, Simons, Janae V., additional, Skinner, Debra, additional, Stoffel, Elena, additional, Strande, Natasha T., additional, Sunyaev, Shamil, additional, Sybert, Virginia P., additional, Taber, Jennifer, additional, Taylor, Deanne M., additional, Tilley, Christian R., additional, Tomlinson, Ashley, additional, Trinidad, Susan, additional, Tsai, Ellen, additional, Ubel, Peter, additional, Van Allen, Eliezer M., additional, Vassy, Jason L., additional, Vats, Pankaj, additional, Vetter, Victoria L., additional, Vries, Raymond D., additional, Walser, Sarah A., additional, Walsh, Rebecca C., additional, Werner-Lin, Allison, additional, Whittle, Jana, additional, Wilfond, Ben, additional, Wilhelmsen, Kirk C., additional, Yang, Yaping, additional, Young, Carol, additional, and Zikmund-Fisher, Brian J., additional

Published
2016
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53. Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs

Author

Saliba, Jason, primary, Zabriskie, Ryan, additional, Ghosh, Rajarshi, additional, Powell, Bradford C., additional, Hicks, Stephanie, additional, Kimmel, Marek, additional, Meng, Qingchang, additional, Ritter, Deborah I., additional, Wheeler, David A., additional, Gibbs, Richard A., additional, Tsai, Francis T.F., additional, and Plon, Sharon E., additional

Published
2016
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54. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

Author

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

Published
2016
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55. Identification of TP53 as an Acute Lymphocytic Leukemia Susceptibility Gene Through Exome Sequencing

Author

Powell, Bradford C., Jiang, Lichun, Muzny, Donna M., Treviño, Lisa R., Dreyer, ZoAnn E., Strong, Louise C., Wheeler, David A., Gibbs, Richard A., and Plon, Sharon E.

Subjects
Male, Humans, Exome, Female, Genetic Predisposition to Disease, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Tumor Suppressor Protein p53, Article, Pedigree
Abstract

Although acute lymphocytic leukemia (ALL) is the most common childhood cancer, genetic predisposition to ALL remains poorly understood. Whole-exome sequencing was performed in an extended kindred in which five individuals had been diagnosed with leukemia. Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred. This unexpected finding enabled identification of an appropriate sibling bone marrow donor and illustrates that exome sequencing will reveal atypical clinical presentations of even well-studied genes.

Published
2012

56. Tracking the evolution of alternatively spliced exons within the Dscamfamily

Author

Crayton, Mack E, Vision, Todd, Powell, Bradford C, and Giddings, Morgan C.

Subjects
fungi
Abstract

Background The Dscam gene in the fruit fly, Drosophila melanogaster, contains twenty-four exons, four of which are composed of tandem arrays that each undergo mutually exclusive alternative splicing (4, 6, 9 and 17), potentially generating 38,016 protein isoforms. This degree of transcript diversity has not been found in mammalian homologs of Dscam. We examined the molecular evolution of exons within this gene family to locate the point of divergence for this alternative splicing pattern. Results Using the fruit fly Dscam exons 4, 6, 9 and 17 as seed sequences, we iteratively searched sixteen genomes for homologs, and then performed phylogenetic analyses of the resulting sequences to examine their evolutionary history. We found homologs in the nematode, arthropod and vertebrate genomes, including homologs in several vertebrates where Dscam had not been previously annotated. Among these, only the arthropods contain homologs arranged in tandem arrays indicative of mutually exclusive splicing. We found no homologs to these exons within the Arabidopsis, yeast, tunicate or sea urchin genomes but homologs to several constitutive exons from fly Dscam were present within tunicate and sea urchin. Comparing the rate of turnover within the tandem arrays of the insect taxa (fruit fly, mosquito and honeybee), we found the variants within exons 4 and 17 are well conserved in number and spatial arrangement despite 248–283 million years of divergence. In contrast, the variants within exons 6 and 9 have undergone considerable turnover since these taxa diverged, as indicated by deeply branching taxon-specific lineages. Conclusion Our results suggest that at least one Dscam exon array may be an ancient duplication that predates the divergence of deuterostomes from protostomes but that there is no evidence for the presence of arrays in the common ancestor of vertebrates. The different patterns of conservation and turnover among the Dscam exon arrays provide a striking example of how a gene can evolve in a modular fashion rather than as a single unit.

Published
2006
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62. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Author

Wilhelmsen, Kirk, Plon, Sharon E., Deardorff, Matthew A., Conlin, Laura K., Appelbaum, Paul S., Berg, Jonathan S., Davis, James V., Ho, Carolyn Y., Vetter, Victoria L., Gornick, Michele C., Biesecker, Leslie G., Jarvik, Gail P., Raskind, Wendy H., Yang, Yaping, Blout, Carrie L., Manolio, Teri A., Goddard, Katrina A.B., Punj, Sumit, Masino, Aaron, Cooper, Greg M., Oliver, Nelly M., Machini, Kalotina, Robinson, Dan, Burt, Amber A., Vassy, Jason L., Roberts, J. Scott, Amaral, Michelle, Ghrundmeier, Bob, Janne, Pasi A., Wilhelmsen, Kirk C., Rehm, Heidi L., Perry, Denise L., Fullerton, Stephanie M., Tsai, Ellen, Tarczy-Hornoch, Peter, Gray, David E., Joffe, Steven, Evans, Barbara, McEwen, Jean, Devkota, Batsal, Scarano, Maria I., Arora, Shubhangi, Lewis, Katie, Lebo, Matthew S., Rivera-Munoz, Edgar A., Richards, Carolyn Sue, Johnston, Jennifer, Lynch, Frances, Werner-Lin, Allison, Veenstra, David L., Patrick, Donald L., Kelley, Whitley, Koenig, Barbara A., Kaufman, Dave, Lambert, Michele P., Mody, Rajen, Dulik, Matthew C., Karavite, Dean, Porter, Katie, Han, Paul, Clayton, Ellen W., Grady, William M., Sharp, Richard R., Rini, Christine, Le, Lan Q., Vats, Pankaj, Filipski, Kelly, Finnila, Candice R., Young, Carol, Skinner, Debra, Martinez, Josue N., Kirby, Christine, Feuerman, Lindsay Z., Mooney, Sean D., Caga-Anan, Charlisse F., Evans, James P., Powell, Bradford C., Taber, Jennifer, Brown, Brian L., Murray, Michael, Bernhardt, Barbara A., Fishler, Kristen, McMullen, Carmit, East, Kelly, Amendola, Laura M., Wolf, Susan M., Stoffel, Elena, Azzariti, Danielle R., Greenwood, Robert S., Garraway, Levi A., Knoppers, Bartha M., Reigar, Dean A., Green, Robert C., Robinson, Marguerite E., Kaufman, David, Parsons, Will, Hong, Celine, Scollon, Sarah, Marchuk, Daniel S., Chung, Wendy K., Sholl, Lynette M., Yu, Joon-Ho, Girnary, Zahra S., Lamb, Neil E., Lee, Alexander, Ng, David, Davis, Kelly, Bebin, Gordon, Adam S., Dorschner, Michael O., Hutter, Carolyn M., Christensen, Kurt D., Henderson, Gail E., Trinidad, Susan, Rich, Carla A., Diamond, Pamela, Lee, Kaitlyn B., Gonsalves, Steven, Hull, Sara, Hisama, Fuki M., Aronson, Samuel J., Kong, Sek Won, Hindorff, Lucia A., Shirts, Brian, Gilmore, Marian J., Carlson, Sara J., Walser, Sarah A., Spinner, Nancy B., Biesecker, Barbara B., Shirts, Brian H., Jamal, Seema, Ou, Jeffrey, Wynn, Julia, Chahin, Nizar, Kauffman, Tia L., Gutierrez, Amanda M., Tabor, Holly K., Siddiqui, Javed, Tomlinson, Ashley, Klein, William, Roberts, Scott, Horike-Pyne, Martha J., Byers, Peter H., Fan, Zheng, Parsons, Donald W., Mieczkowski, Piotr A., Moore, Elizabeth G., Myers, Richard M., Lennon, Niall, Holm, Ingrid A., Miller, Jeff, Silverman, Elian, Kim, Jerry H., Morris, Elissa, Cooper, Gregory M., East, Kelly M., Seifert, Bryce A., Burke, Wylie, Calikoglu, Muge G., Strande, Natasha T., Lupo, Philip J., Lonigro, Bob, Walsh, Rebecca C., Whittle, Jana, Muzny, Donna, Crosslin, David R., Pennington, Jeffrey, Giles, Karen, Cirino, Allison L., Hoffman-Andrews, Lily B., Gray, Stacy W., Chinnaiyan, Arul M., Nickerson, Deborah A., Raesz-Martinez, Robin A., Hart, Ragan, Dugan, Noreen P., Heagerty, Patrick, Macrae, Calum, Leppig, Kathleen A., Roche, Myra I., Rodriguez, Laura Lyman, Van Allen, Eliezer M., Brothers, Kyle B., Himes, Patricia, Breitkopf, Carmen Radecki, De Vries, Raymond, Rosenthal, Elisabeth A., Sybert, Virginia P., Lockhart, Nicole, Exe, Nicole, Krantz, Ian D., Simmons, Shirley, Biswas, Sawona, Simons, Janae V., Lewis, Michelle Huckaby, Romasko, Edward J., Garrett, Jeremy R., Lindeman, Neal I., Sunyaev, Shamil, Krier, Joel B., Seidman, Christine E., Hiatt, Susan M., Bowling, Kevin M., Leo, Michael C., Robinson, Jill O., Salama, Joseph S., Wilfond, Benjamin S., Barsh, Greg S., Reiss, Jacob A., Tilley, Christine R., Zikmund-Fisher, Brian J, McGuire, Amy, Miller, Victoria A., Taylor, Deanne M., Jensen, Brian C., McCullough, Laurence, Dukhovny, Dmitry, Weck, Karen, Everett, Jessica, Robertson, Peggy D., Schneider, Jennifer, Vries, Raymond D., Petersen, Gloria M., Wagle, Nikhil, McLaughlin, Heather M., Lose, Edward J., and Hensman, Naomi

Subjects
3. Good health
Abstract

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

63. 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 controlled trial protocol

Author

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

Subjects
embryonic structures, food and beverages, 3. Good health
Abstract

Background Using next-generation sequencing (NGS) in newborn screening (NBS) could expand the number of genetic conditions detected pre-symptomatically, simultaneously challenging current precedents, raising ethical concerns, and extending the role of parental decision-making in NBS. The NC NEXUS (Newborn Exome Sequencing for Universal Screening) study seeks to assess the technical possibilities and limitations of NGS-NBS, devise and evaluate a framework to convey various types of genetic information, and develop best practices for incorporating NGS-NBS into clinical care. The study is enrolling both a healthy cohort and a cohort diagnosed with known disorders identified through recent routine NBS. It uses a novel age-based metric to categorize a priori the large amount of data generated by NGS-NBS and interactive online decision aids to guide parental decision-making. Primary outcomes include: (1) assessment of NGS-NBS sensitivity, (2) decision regret, and (3) parental decision-making about NGS-NBS, and, for parents randomized to have the option of requesting them, additional findings (diagnosed and healthy cohorts). Secondary outcomes assess parents’ reactions to the study and to decision-making. Methods/design Participants are parents and children in a well-child cohort recruited from a prenatal clinic and a diagnosed cohort recruited from pediatric clinics that treat children with disorders diagnosed through traditional NBS (goal of 200 children in each cohort). In phase 1, all parent participants use an online decision aid to decide whether to accept NGS-NBS for their child and provide consent for NGS-NBS. In phase 2, parents who consent to NGS-NBS are randomized to a decision arm or control arm (2:1 allocation) and learn their child’s NGS-NBS results, which include conditions from standard (non-NGS) NBS plus other highly actionable childhood-onset conditions. Parents in the decision arm use a second decision aid to make decisions about additional results from their child’s sequencing. In phase 3, decision arm participants learn additional results they have requested. Online questionnaires are administered at up to five time points. Discussion NC NEXUS will use a rigorous interdisciplinary approach designed to collect rich data to inform policy, practice, and future research. Trial registration clinicaltrials.gov, NCT02826694 . Registered on 11 July, 2016.

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

Author

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

Subjects
3. Good health
Abstract

As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental findings, and there is debate about how they should be handled. The clinical actionability of such findings varies, necessitating standardized frameworks for a priori decision making about their analysis.

65. WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.

Author

Sneddon TP, Gilmore KL, Xiong M, Weck KE, Powell BC, and Vora NL

Abstract

Gain-of-function variants in the WDR44 gene have recently been associated with an X-linked ciliopathy-related neurodevelopmental phenotype. Here, we report on a WDR44 loss-of-function (LOF) variant identified in the genome sequence from a male fetus enrolled in the Prenatal Genetic Diagnosis by Genomic Sequencing (PrenatalSEQ) multicenter study. The phenotype is consistent with the described X-linked ciliopathy that includes developmental delay, microcephaly, congenital heart defects, kidney abnormalities, cryptorchidism, musculoskeletal abnormalities, craniofacial dysmorphism, and effusions. This is the first report of a WDR44 LOF variant in an affected individual with a prenatal presentation and supports LOF as a mechanism for the X-linked WDR44 ciliopathy-related phenotype., (© 2024 Wiley Periodicals LLC.)

Published
2024
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66. Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience.

Author

Muenzen KD, Amendola LM, Kauffman TL, Mittendorf KF, Bensen JT, Chen F, Green R, Powell BC, Kvale M, Angelo F, Farnan L, Fullerton SM, Robinson JO, Li T, Murali P, Lawlor JMJ, Ou J, Hindorff LA, Jarvik GP, and Crosslin DR

Abstract

Integrating data across heterogeneous research environments is a key challenge in multi-site, collaborative research projects. While it is important to allow for natural variation in data collection protocols across research sites, it is also important to achieve interoperability between datasets in order to reap the full benefits of collaborative work. However, there are few standards to guide the data coordination process from project conception to completion. In this paper, we describe the experiences of the Clinical Sequence Evidence-Generating Research (CSER) consortium Data Coordinating Center (DCC), which coordinated harmonized survey and genomic sequencing data from seven clinical research sites from 2020 to 2022. Using input from multiple consortium working groups and from CSER leadership, we first identify 14 lessons learned from CSER in the categories of communication, harmonization, informatics, compliance, and analytics. We then distill these lessons learned into 11 recommendations for future research consortia in the areas of planning, communication, informatics, and analytics. We recommend that planning and budgeting for data coordination activities occur as early as possible during consortium conceptualization and development to minimize downstream complications. We also find that clear, reciprocal, and continuous communication between consortium stakeholders and the DCC is equally important to maintaining a secure and centralized informatics ecosystem for pooling data. Finally, we discuss the importance of actively interrogating current approaches to data governance, particularly for research studies that straddle the research-clinical divide., Competing Interests: The authors declare no competing interests., (© 2022 The Author(s).)

Published
2022
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