International Standards for Cytogenomic Arrays
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA695810 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:International Standards for Cytogenomic Arrays
| PRJNA76081 | ENA
Project description:<p>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.</p> <p>Efforts of the Consortium include:</p> <p><b>Clinical Utility:</b> The ISCA Consortium has made recommendations regarding the appropriate clinical indications for cytogenetic array testing (Miller et al. AJHG 2010, PMID: <a href="http://www.ncbi.nlm.nih.gov/pubmed/20466091" target="_blank">20466091</a>). 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 (<a href="http://www.urmc.rochester.edu/ccmc/" target="_blank">http://www.urmc.rochester.edu/ccmc/</a>).</p> <p><b>Evidence-based standards for cytogenomic array design:</b> 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).</p> <p><b>Public Database for clinical and research community:</b> 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.</p> <p><b>Standards for interpretation of cytogenetic array results:</b> 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.</p> <p><b>Membership</b> 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.</p> <p><b>ISCA is available through dbVar:</b><br/> <a href="http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd37/" target="_blank">http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd37/</a><br/> <a href="http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd75/" target="_blank">http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd75/</a><br/> <a href="http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd45/" target="_blank">http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd45/</a><br/> <a href="http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd101/" target="_blank">http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd101/</a><br/> </p>
| phs000205 | dbGaP
Project description:<p>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.</p> <p>Efforts of the Consortium include:</p> <p><b>Clinical Utility:</b> The ISCA Consortium has made recommendations regarding the appropriate clinical indications for cytogenetic array testing (Miller et al. AJHG 2010, PMID: <a href="http://www.ncbi.nlm.nih.gov/pubmed/20466091" target="_blank">20466091</a>). 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 (<a href="http://www.urmc.rochester.edu/ccmc/" target="_blank">http://www.urmc.rochester.edu/ccmc/</a>).</p> <p><b>Evidence-based standards for cytogenomic array design:</b> 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).</p> <p><b>Public Database for clinical and research community:</b> 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.</p> <p><b>Standards for interpretation of cytogenetic array results:</b> 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.</p> <p><b>Membership</b> 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.</p> <p><b>ISCA is available through dbVar:</b><br/> <a href="http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd37" target="_blank">http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd37/</a><br/> <a href="http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd45" target="_blank">http://www.ncbi.nlm.nih.gov/dbvar/studies/nstd45/</a> </p>
| phs000205.v4.p2 | EGA
Project description:Whole genome array data from the International Standards for Cytogenomic Arrays (ISCA) Consortium
| PRJNA42509 | ENA
Project description:Baseline expression levels of genes in CEPH individuals from the International HapMap Project were measured using the Affymetrix Human Genome Focus Arrays. Arrays were analyzed using MAS 5.0 software (Affymetrix).
2007-06-22 | E-GEOD-2552 | biostudies-arrayexpress
Project description:The purpose of this work was to describe a computational and analytical methodology for profiling small RNA by high-throughput sequencing. The datasets here were used to develop synthetic oligoribonucleotides as spike-in standards.
2009-06-03 | GSE14695 | GEO
Project description:Reference Standards for Mosaic Variant Detection
| PRJNA1007404 | ENA
Project description:Reference Standards for Mosaic Variant Detection
| PRJNA1007405 | ENA
Project description:While the importance of random sequencing errors decreases at higher DNA or RNA sequencing depths, systematic sequencing errors (SSEs) dominate at high sequencing depths and can be difficult to distinguish from biological variants. These SSEs can cause base quality scores to underestimate the probability of error at certain genomic positions, resulting in false positive variant calls, particularly in mixtures such as samples with RNA editing, tumors, circulating tumor cells, bacteria, mitochondrial heteroplasmy, or pooled DNA. Most algorithms proposed for correction of SSEs require a training data set, which is typically either from a part of the data set being “recalibrated” (Genome Analysis ToolKit, or GATK) or from a separate data set with special characteristics (SysCall). Here, we combine the advantages of these approaches by adding synthetic RNA spike-in standards to human RNA, and use GATK to recalibrate base quality scores with reads mapped to the spike-in standards. Compared to conventional GATK recalibration that uses reads mapped to the genome, spike-ins improve the accuracy of Illumina base quality scores by a mean of 5 units, and by as much as 13 units at CpG sites. In addition, since reads mapping to the genome are not used for recalibration, our method allows run-specific recalibration even for the many species without a comprehensive and accurate SNP database. We also use GATK with the spike-in standards to demonstrate that the Illumina RNA sequencing runs overestimate quality scores for AC, CC, GC, GG, and TC dinucleotides, while SOLiD has less dinucleotide SSEs but more SSEs for certain cycles. We conclude that using these DNA and RNA spike-in standards with GATK improves base quality score recalibration.
2012-03-03 | GSE36217 | GEO