< decipherContainer |

NOTE:
< decipherContainer | While the DECIPHER database is < decipherContainer | open to the public, users seeking information about a personal medical or < decipherContainer | genetic condition are urged to consult with a qualified physician for < decipherContainer | diagnosis and for answers to personal questions. < decipherContainer |

< decipherContainer |

Because the UCSC Genes mappings for CNVs are based on associations from < decipherContainer | RefSeq and UniProt, they are dependent on any interpretations from those < decipherContainer | sources. Furthermore, because many DECIPHER records refer to multiple gene < decipherContainer | names, or syndromes not tightly mapped to individual genes, the associations < decipherContainer | in this track should be treated with skepticism and any conclusions < decipherContainer | based on them should be carefully scrutinized using independent < decipherContainer | resources. < decipherContainer |

< decipherContainer |

Data Display Agreement Notice
< decipherContainer | These data are only available for display in the Browser, and not for bulk < decipherContainer | download. Access to bulk data may be obtained directly from DECIPHER < decipherContainer | (https://www.deciphergenomics.org/about/data-sharing) and is subject to a < decipherContainer | Data Access Agreement, in which the user certifies that no attempt to < decipherContainer | identify individual patients will be undertaken. The same restrictions < decipherContainer | apply to the public data displayed at UCSC in the UCSC Genome Browser; < decipherContainer | no one is authorized to attempt to identify patients by any means. < decipherContainer |

< decipherContainer |

These data are made available as soon as possible and may be a < decipherContainer | pre-publication release. For information on the proper use of DECIPHER < decipherContainer | data, please see https://www.deciphergenomics.org/about/data-sharing. < decipherContainer |

< decipherContainer |

The DECIPHER consortium provides these data in good faith as a research < decipherContainer | tool, but without verifying the accuracy, clinical validity, or utility of < decipherContainer | the data. The DECIPHER consortium makes no warranty, express or implied, < decipherContainer | nor assumes any legal liability or responsibility for any purpose for < decipherContainer | which the data are used. < decipherContainer |

< decipherContainer |

< decipherContainer | The < decipherContainer | DECIPHER < decipherContainer | database of submicroscopic chromosomal imbalance < decipherContainer | collects clinical information about chromosomal < decipherContainer | microdeletions/duplications/insertions, translocations and inversions, < decipherContainer | and displays this information on the human genome map. < decipherContainer |

< decipherContainer | The CNVs and SNVs tracks show genomic regions of reported cases and their < decipherContainer | associated phenotype information. All data have passed the strict < decipherContainer | consent requirements of the DECIPHER project and are approved for < decipherContainer | unrestricted public release. Clicking the Patient View ID link < decipherContainer | brings up a more detailed informational page on the patient at the < decipherContainer | DECIPHER web site.

< decipherContainer | The DDG2P (Developmental Disorders Genotype-to-Phenotype) track represents a curated < decipherContainer | collection of genomic variants associated with developmental disorders. < decipherContainer | Each entry in the DDG2P track corresponds to specific genomic regions linked to developmental < decipherContainer | disorders, annotated with relevant phenotypic descriptions. < decipherContainer |

Display Conventions and Configuration

< decipherContainer | The genomic locations of DECIPHER variants are labeled with the DECIPHER variant descriptions. < decipherContainer | Mouseover on items shows variant details, clinical interpretation, and associated conditions. < decipherContainer | Further information on each variant is displayed on the details page by a click onto any variant. < decipherContainer |

< decipherContainer | For the CNVs track, the entries are colored by the type of variant: < decipherContainer |

< decipherContainer | A light-to-dark color gradient indicates the clinical significance of each variant, with < decipherContainer | the lightest shade being benign, to the darkest shade being pathogenic. Detailed information on the < decipherContainer | CNV color code is described here. < decipherContainer | Items can be filtered according to the size of the variant, variant type, and clinical significance < decipherContainer | using the track Configure options. < decipherContainer |

< decipherContainer | For the SNVs track, the entries are colored according to the estimated clinical significance < decipherContainer | of the variant: < decipherContainer |

< decipherContainer | For the DDG2P track, genomic variants are visually differentiated to facilitate quick and < decipherContainer | clear identification. Variants are colored according to their clinical significance and type: < decipherContainer |

< decipherContainer | The DDG2P track's mouseover tooltip provides the following information about the data: < decipherContainer |

Method

< decipherContainer | Data provided by the DECIPHER project group are imported and processed < decipherContainer | to create a simple BED track to annotate the genomic regions associated < decipherContainer | with individual patients. < decipherContainer |

Contact

Data Access

< decipherContainer | The DECIPHER project data access and documentation can be found at < decipherContainer | DECIPHER Downloads. < decipherContainer |

References

Description

< decipherDDG2P |

NOTE:
< decipherDDG2P | While the DECIPHER database is < decipherDDG2P | open to the public, users seeking information about a personal medical or < decipherDDG2P | genetic condition are urged to consult with a qualified physician for < decipherDDG2P | diagnosis and for answers to personal questions. < decipherDDG2P |

< decipherDDG2P |

Because the UCSC Genes mappings for CNVs are based on associations from < decipherDDG2P | RefSeq and UniProt, they are dependent on any interpretations from those < decipherDDG2P | sources. Furthermore, because many DECIPHER records refer to multiple gene < decipherDDG2P | names, or syndromes not tightly mapped to individual genes, the associations < decipherDDG2P | in this track should be treated with skepticism and any conclusions < decipherDDG2P | based on them should be carefully scrutinized using independent < decipherDDG2P | resources. < decipherDDG2P |

< decipherDDG2P |

Data Display Agreement Notice
< decipherDDG2P | These data are only available for display in the Browser, and not for bulk < decipherDDG2P | download. Access to bulk data may be obtained directly from DECIPHER < decipherDDG2P | (https://www.deciphergenomics.org/about/data-sharing) and is subject to a < decipherDDG2P | Data Access Agreement, in which the user certifies that no attempt to < decipherDDG2P | identify individual patients will be undertaken. The same restrictions < decipherDDG2P | apply to the public data displayed at UCSC in the UCSC Genome Browser; < decipherDDG2P | no one is authorized to attempt to identify patients by any means. < decipherDDG2P |

< decipherDDG2P |

These data are made available as soon as possible and may be a < decipherDDG2P | pre-publication release. For information on the proper use of DECIPHER < decipherDDG2P | data, please see https://www.deciphergenomics.org/about/data-sharing. < decipherDDG2P |

< decipherDDG2P |

The DECIPHER consortium provides these data in good faith as a research < decipherDDG2P | tool, but without verifying the accuracy, clinical validity, or utility of < decipherDDG2P | the data. The DECIPHER consortium makes no warranty, express or implied, < decipherDDG2P | nor assumes any legal liability or responsibility for any purpose for < decipherDDG2P | which the data are used. < decipherDDG2P |

< decipherDDG2P |

< decipherDDG2P | The < decipherDDG2P | DECIPHER < decipherDDG2P | database of submicroscopic chromosomal imbalance < decipherDDG2P | collects clinical information about chromosomal < decipherDDG2P | microdeletions/duplications/insertions, translocations and inversions, < decipherDDG2P | and displays this information on the human genome map. < decipherDDG2P |

< decipherDDG2P | The CNVs and SNVs tracks show genomic regions of reported cases and their < decipherDDG2P | associated phenotype information. All data have passed the strict < decipherDDG2P | consent requirements of the DECIPHER project and are approved for < decipherDDG2P | unrestricted public release. Clicking the Patient View ID link < decipherDDG2P | brings up a more detailed informational page on the patient at the < decipherDDG2P | DECIPHER web site.

< decipherDDG2P | The DDG2P (Developmental Disorders Genotype-to-Phenotype) track represents a curated < decipherDDG2P | collection of genomic variants associated with developmental disorders. < decipherDDG2P | Each entry in the DDG2P track corresponds to specific genomic regions linked to developmental < decipherDDG2P | disorders, annotated with relevant phenotypic descriptions. < decipherDDG2P |

Display Conventions and Configuration

< decipherDDG2P | The genomic locations of DECIPHER variants are labeled with the DECIPHER variant descriptions. < decipherDDG2P | Mouseover on items shows variant details, clinical interpretation, and associated conditions. < decipherDDG2P | Further information on each variant is displayed on the details page by a click onto any variant. < decipherDDG2P |

< decipherDDG2P | For the CNVs track, the entries are colored by the type of variant: < decipherDDG2P |

< decipherDDG2P | A light-to-dark color gradient indicates the clinical significance of each variant, with < decipherDDG2P | the lightest shade being benign, to the darkest shade being pathogenic. Detailed information on the < decipherDDG2P | CNV color code is described here. < decipherDDG2P | Items can be filtered according to the size of the variant, variant type, and clinical significance < decipherDDG2P | using the track Configure options. < decipherDDG2P |

< decipherDDG2P | For the SNVs track, the entries are colored according to the estimated clinical significance < decipherDDG2P | of the variant: < decipherDDG2P |

< decipherDDG2P | For the DDG2P track, genomic variants are visually differentiated to facilitate quick and < decipherDDG2P | clear identification. Variants are colored according to their clinical significance and type: < decipherDDG2P |

< decipherDDG2P | The DDG2P track's mouseover tooltip provides the following information about the data: < decipherDDG2P |

Method

< decipherDDG2P | Data provided by the DECIPHER project group are imported and processed < decipherDDG2P | to create a simple BED track to annotate the genomic regions associated < decipherDDG2P | with individual patients. < decipherDDG2P |

Contact

Data Access

< decipherDDG2P | The DECIPHER project data access and documentation can be found at < decipherDDG2P | DECIPHER Downloads. < decipherDDG2P |