Abstract

COORDINATING AND ADMINISTRATIVE CORE RESEARCH SUMMARY/ABSTRACT. The Coordinating and Administrative Core (CAC) oversees various activities relating to internal DGAP coordination, administration and reporting among Projects 1-3, activities concerning outside collaborations and sample recruitment including all institutional requirements pertaining to human subjects research. Communication with referring healthcare providers, research participants, and their families concerning inquiries that occur and findings that arise throughout the course of the study with potential medical implications for the subject or the subject's family are handled through the CAC, insuring that accurate clinical information is correlated with genomic analyses. The CAC ensures appropriate use of internal and external resources, thus synergizing efforts and providing oversight of the fiscal solvency of the project and appropriate prioritization of subject participation. The CAC also endeavors to seek out opportunities for translating DGAP discoveries in the evolving discipline of genomic medicine.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Research Program Projects (P01)
Project #
5P01GM061354-13
Application #
9249603
Study Section
Special Emphasis Panel (ZRG1-GGG-Q)
Project Start
2001-04-01
Project End
Budget Start
2017-04-01
Budget End
2018-03-31
Support Year
13
Fiscal Year
2017
Total Cost
$492,736
Indirect Cost
$89,726

  Institution

Name
Brigham and Women's Hospital
Department
Type
Independent Hospitals
DUNS #
030811269
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

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
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:

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