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Title: International Standards for Cytogenomic Arrays      
citations:
23044707
22610653
22097934
22331816
21844811
21055719
20466091
18496225
description:
The International Standards for Cytogenomic Arrays (ISCA) Consortium is a rapidly growing group of clinical cytogenetics and molecular genetics laboratories committed to improving quality of patient care related to clinical genetic testing using new molecular cytogenetic technologies including array comparative genomic hybridization (aCGH) and quantitative SNP analysis by microarrays or bead chip technology. The ISCA Consortium is now working with the sequencing community to extend the goals of standardization, collaboration, and data sharing. To reflect this combined effort, we are becoming ICCG, or the International Collaboration for Clinical Genomics. Efforts of the Consortium include: Clinical Utility: The ISCA Consortium has made recommendations regarding the appropriate clinical indications for cytogenetic array testing (Miller et al. AJHG 2010, PMID: 20466091). Currently, discussions are focused on pediatric applications for children with unexplained developmental delay, intellectual disability, autism and other developmental disabilities. A separate committee has been developed to address appropriate cancer genetic applications (http://www.urmc.rochester.edu/ccmc/). Evidence-based standards for cytogenomic array design: The Consortium will develop recommendations for standards for the design, resolution and content of cytogenomic arrays using an evidence-based process and an international panel of experts in clinical genetics, clinical laboratory genetics (cytogenetics and molecular genetics), genomics and bioinformatics. This design is intended to be platform and vendor-neutral (common denominator is genome sequence coordinates), and is a dynamic process with input from the broader genetics community and evidence-based review by the expert panel (a Steering Committee with international representation). Public Database for clinical and research community: It is essential that a publicly available database be created and maintained for cytogenetic array data generated in clinical testing laboratories. This will be integrated into the current dbGaP database at NCBI/NIH and released through dbVar, and curated by a committee of clinical genetics laboratory experts. The very high quality of copy number data (i.e., deletions and duplications) coming from clinical laboratories combined with expert curation will produce an invaluable resource to the clinical and research communities. Standards for interpretation of cytogenetic array results: Using the ISCA Database, along with other genomic and genetics databases, the Consortium will develop recommendations for the interpretation and reporting of pathogenic vs. benign copy number changes as well as imbalances of uncertain clinical significance. Membership in the ISCA Consortium is open to all individuals and laboratories involved in cytogenetic array testing who are committed to free data sharing and to participation in a process to develop evidence-based standards and guidelines to improve patient care. ISCA is available through dbVar: http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd37/ http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd75/ http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd45/ http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd101/
Identifier:
phs000205.v6.p2
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000205.v6.p2
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Developmental Disabilities
Intellectual disability
Autistic Disorder
Congenital Abnormalities
affiliations:
Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA
name:
Christa Lese Martin, PhD, FACMG
roles:
Principal Investigator, contact person
affiliations:
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
name:
Leslie Biesecker
roles:
Principal Investigators
affiliations:
Wellcome Trust Sanger Institute, Cambridge, UK
name:
Matthew Hurles
roles:
Principal Investigators
affiliations:
Birmingham Women's NHS Foundation Trust, Birmingham, UK
name:
Dominic McMullan
roles:
Principal Investigators
affiliations:
University of Washington, Seattle, WA, USA
name:
Evan Eichler
roles:
Principal Investigators
affiliations:
Johns Hopkins/OMIM, Baltimore, MD, USA
name:
Ada Hamosh
roles:
Principal Investigators
affiliations:
Geisinger Health System, Danville, PA, USA
name:
David Ledbetter
roles:
Principal Investigators
affiliations:
Harvard-Brigham and Women's, Boston, MA, USA
name:
Charles Lee
roles:
Principal Investigators
affiliations:
Harvard-Boston Children's, Boston, MA, USA
name:
David Miller
roles:
Principal Investigators
affiliations:
Children's Hospital of Philadelphia, Philadelphia, PA, USA
name:
Nancy Spinner
roles:
Principal Investigators
affiliations:
Universiteit Leuven, Belgium
name:
Joris Vermeesch
roles:
Principal Investigators
affiliations:
Murdoch Children's Research Institute, Australia
name:
Damien Bruno
roles:
Principal Investigators
affiliations:
Laboratory of Medical Genetics, Maribor, Slovenia
name:
Danijela Krgovic
roles:
Contributors
affiliations:
Chinese University of Hong Kong, Ma Liu Shui, Hong Kong
name:
Richard Choy
roles:
Contributors
affiliations:
Central Regional Genetic Services, Wellington Hospital, Wellington, New Zealand
name:
Rachel Beddow
roles:
Contributors
affiliations:
Sudbury Regional Hospital, Sudbury, Ontario, Canada
name:
Gilbert Côté
roles:
Contributors
affiliations:
University of Nebraska Medical University, Omaha, Nebraska, USA
name:
Kristi DeHaai
roles:
Contributors
affiliations:
University of Miami, Coral Gables, Florida, USA
name:
Yao-Shan Fan
roles:
Contributors
affiliations:
The Credit Valley Hospital, Mississauga, Ontario, Canada
name:
Marsha Speevak
roles:
Contributors
affiliations:
GeneDx, Gaithersburg, Maryland, USA
name:
Swaroop Aradhya
roles:
Contributors
affiliations:
Emory Genetics Laboratory, Decatur, GA, USA
name:
Erin Rooney Riggs
roles:
Contributors
affiliations:
Mayo Clinic, Rochester, Minnesota, USA
name:
Karen Wain
roles:
Contributors
affiliations:
George Washington University, Washington, District of Columbia, USA
name:
Julia Zachary
roles:
Contributors
performedBy:
TitleNameInstitute Principal Investigator, contact personChrista Lese Martin, PhD, FACMGAutism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA Principal InvestigatorsLeslie BieseckerNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA Principal InvestigatorsMatthew HurlesWellcome Trust Sanger Institute, Cambridge, UK Principal InvestigatorsDominic McMullanBirmingham Women's NHS Foundation Trust, Birmingham, UK Principal InvestigatorsEvan EichlerUniversity of Washington, Seattle, WA, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000205.v6.p2
Identifier:
phs000205.v6.p2_policy
name:
Data Use Certificate
Identifier:
1
name:
General Research Use
alternateIdentifiers:
yes
selectionCriteria:

Data includes samples from patients referred for genetic testing

types:
Clinical Genetic Testing
dateReleased:
01-21-2015
version:
phs000205.v6.p2
dateModified:
06-07-2016
abbreviation:
NICHD
name:
NICHD-DAC
ID:
0
name:
dbGaP