The Administrative Core provides fundamental scientific and fiscal oversight of Projects 1-3 and of the Clinical Genetics Core in an overall effort for successful execution of the experimental plan. A major goal of this Core is to ensure that there is a robust subject recruitment plan and good communic'ation, both internally within DGAP and externally with collaborating investigators. To this end, it serves to assist in the coordination and workflow among the Projects and Cores. Various policy decisions ranging from case prioritization to changes in the experimental plan due to evolving technologies to issues of authorship on DGAP publications are under the purview of the Administrative Core. The Administrative Core is accountable for the annual reporting of progress in DGAP. The Administrative Core also functions to facilitate interaction with the Advisory Committee.

Public Health Relevance

The Developmental Genome Anatomy Project studies a group of patients underserved by the health care system: those with congenital abnormalities due to chromosome rearrangements. Our mission is to discover genes of importance in human development that are disrupted by these chromosomal rearrangements, genes that are difficult to identify by more traditional human genetic strategies, thereby opening investigation of the disorders that they cause.

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Research Program Projects (P01)
Project #
5P01GM061354-10
Application #
8460910
Study Section
Special Emphasis Panel (ZRG1-GGG-G)
Project Start
Project End
2015-03-31
Budget Start
2013-04-01
Budget End
2014-03-31
Support Year
10
Fiscal Year
2013
Total Cost
$201,897
Indirect Cost
$134,645
Name
Brigham and Women's Hospital
Department
Type
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
02115
Currall, Benjamin B; Chen, Ming; Sallari, Richard C et al. (2018) Loss of LDAH associated with prostate cancer and hearing loss. Hum Mol Genet 27:4194-4203
Dong, Zirui; Wang, Huilin; Chen, Haixiao et al. (2018) Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med 20:697-707
Halgren, Christina; Nielsen, Nete M; Nazaryan-Petersen, Lusine et al. (2018) Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes. Am J Hum Genet 102:1090-1103
Waggoner, Darrel; Wain, Karen E; Dubuc, Adrian M et al. (2018) Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 20:1105-1113
Wilch, Ellen S; Morton, Cynthia C (2018) Historical and Clinical Perspectives on Chromosomal Translocations. Adv Exp Med Biol 1044:1-14
Zepeda-Mendoza, Cinthya J; Menon, Shreya; Morton, Cynthia C (2018) Computational Prediction of Position Effects of Human Chromosome Rearrangements. Curr Protoc Hum Genet 97:
Werling, Donna M; Brand, Harrison; An, Joon-Yong et al. (2018) An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet 50:727-736
Dong, Zirui; Ye, Lingfei; Yang, Zhenjun et al. (2018) Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing. Curr Protoc Hum Genet 96:8.18.1-8.18.16
Zepeda-Mendoza, Cinthya J; Bardon, Alexandra; Kammin, Tammy et al. (2018) Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet 26:374-381
Schilit, Samantha L P; Morton, Cynthia C (2018) 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Hum Genet 137:55-62

Showing the most recent 10 out of 94 publications