Potencia tu investigación a través de datos de Kids First, herramientas y recursos. Descubra la sólida colección de cáncer infantil, desorden congenito, y datos de condiciones cruzadas disponibles ahora.
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Cáncer
Desorden congenito
Condición cruzada
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Desorden congenito
Los niños primero: Cromosoma 18 Defectos de nacimiento estructurales
Lecturas alineadas
gVCF individuales
Desorden congenito
Los niños primero: Defectos cerebrales estructurales recesivos
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Atresia esofágica y fístulas traqueoesofágicas
Lecturas alineadas
Desorden congenito
Los niños primero: Defectos estructurales del tubo neural
Lecturas alineadas
gVCF individuales
VCF de base familiar
Cáncer
Los niños primero: Tumores intracraneales de células germinales
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Trastornos del espectro alcohólico fetal
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Hendiduras orofaciales – Filipinas
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Síndrome de CARGA
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Defectos de nacimiento de lateralidad
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Extrofia vesical, epispadias, Complejo
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Síndrome de Cornelia de Lange
Lecturas alineadas
gVCF individuales
VCF de base familiar
Cáncer
Los niños primero: TODOS de células T
Lecturas alineadas
gVCF individuales
VCF
TSV de expresión genética
Condición cruzada
Los niños primero: Leucemia & Defectos cardíacos en el síndrome de Down
Lecturas alineadas
gVCF individuales
VCF de base familiar
Cáncer
Los niños primero: Neoplasias mieloides
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
niño primero: hemangiomas (FACE)
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Craneosinostosis no sindrómica
Lecturas alineadas
gVCF individuales
VCF de base familiar
Condición cruzada
Los niños primero: Intersecciones del cáncer & SBD
Lecturas alineadas
gVCF individuales
VCF de base familiar
Cáncer
OBJETIVO: Leucemia mieloide aguda
Lecturas alineadas
Desorden congenito
Los niños primero: microtia – Hispano
Lecturas alineadas
Desorden congenito
Los niños primero: Defectos renales y del tracto urinario
Lecturas alineadas
gVCF individuales
VCF de base familiar
Desorden congenito
Los niños primero: Microsomía craneofacial
Lecturas alineadas
gVCF individuales
VCF de base familiar
Cáncer
Los niños primero: Osteosarcoma
Lecturas alineadas
Cáncer
Los niños primero: Nueva susceptibilidad al cáncer en las familias (desde BASIC3)
Lecturas alineadas
gVCF individuales
VCF de base familiar
Lecturas no alineadas
Desorden congenito
Los niños primero: Hendidura Orofacial – Ascendencia africana y asiática
Lecturas alineadas
gVCF individuales
Cáncer
Los niños primero: Leucemia familiar
Lecturas alineadas
Lecturas no alineadas
VCF
Cáncer
Los niños primero: Encondromatosis
Lecturas alineadas
Lecturas no alineadas
VCF
Cáncer
Los niños primero: Neuroblastoma
Lecturas alineadas
gVCF individuales
VCF de base familiar
Lecturas no alineadas
TSV de expresión genética
Cáncer
Atlas de tumores cerebrales pediátricos: PNOC
Lecturas alineadas
TSV de expresión genética
Mutaciones somáticas comentadas
Fusiones genéticas
Variaciones del número de copias somáticas
Expresión de isoforma
Desorden congenito
Los niños primero: Hendidura Orofacial – latinoamericano
Lecturas alineadas
gVCF individuales
VCF de base familiar
Cáncer
OBJETIVO: Neuroblastoma
Lecturas alineadas
Desorden congenito
Los niños primero: Trastornos del desarrollo sexual
Lecturas alineadas
gVCF individuales
05/28/2019
Data shape changes to support the Kids First Data Resource Portal
04/29/2019
Data shape changes to support the Kids First Data Resource Portal
02/05/2019
Major release for back end structural changes in preparation to release family-based joint genotyping files. Removed 37 participants & data for further genomic QC review. Full details can be found on this sheet (linked here)
11/05/2018
Published major release to account for underlying data model changes to add method_of_sample_procurement on biospecimen and to make HPO terms searchable by their standard name alongside their code.
10/11/2018
Initial portal release
>
Data shape changes to support the Kids First Data Resource Portal
04/29/2019
Data shape changes to support the Kids First Data Resource Portal
02/05/2019
Major release for back end structural changes in preparation to release family-based joint genotyping files. Removed 37 participants & data for further genomic QC review. Full details can be found on this sheet (linked here)
11/05/2018
Published major release to account for underlying data model changes to add method_of_sample_procurement on biospecimen and to make HPO terms searchable by their standard name alongside their code.
10/11/2018
Initial portal release
>
Desorden congenito
Los niños primero: Escoliosis idiopática adolescente
Lecturas alineadas
gVCF individuales
05/28/2019
Data shape changes to support the Kids First Data Resource Portal
04/29/2019
Data shape changes to support the Kids First Data Resource Portal
04/23/2019
Added back GRCh38 harmonized data for all samples. This adds back the missing reads in the q-arm of ChrX Updated the list of samples hidden that are undergoing further genomic QC Review (listed here)
02/08/2019
Removed all GRCh38 harmonized data per latest Known Issue impacted by the missing reads in the q-arm of ChrX
02/05/2018
Major release for back end structural changes in preparation to release family-based joint genotyping files Removed 50 participants & data for further genomic QC review. Full details can be found on this sheet (listed here)
11/05/2018
Published major release to account for underlying data model changes to add method_of_sample_procurement on biospecimen and to make HPO terms searchable by their standard name alongside their code
10/11/2018
Released data model change to move Consent Type from Participant to Biospecimen
10/05/2018
Mapped the harmonized files created by the DRC to the source genomic files’ sequencing experiment. This allows both source & harmonized files to be searchable when filtering on Experiment Strategy.
09/18/2018
Fixed participant with missing family ID. PT_BX9B2A7T now has the correct family ID Updated participant consent types to align with dbGaP
09/10/2018
Initial version release of this study as part of the Kids First Data Resource Center. Latest dbGaP release notes (linked here)
>
Data shape changes to support the Kids First Data Resource Portal
04/29/2019
Data shape changes to support the Kids First Data Resource Portal
04/23/2019
Added back GRCh38 harmonized data for all samples. This adds back the missing reads in the q-arm of ChrX Updated the list of samples hidden that are undergoing further genomic QC Review (listed here)
02/08/2019
Removed all GRCh38 harmonized data per latest Known Issue impacted by the missing reads in the q-arm of ChrX
02/05/2018
Major release for back end structural changes in preparation to release family-based joint genotyping files Removed 50 participants & data for further genomic QC review. Full details can be found on this sheet (listed here)
11/05/2018
Published major release to account for underlying data model changes to add method_of_sample_procurement on biospecimen and to make HPO terms searchable by their standard name alongside their code
10/11/2018
Released data model change to move Consent Type from Participant to Biospecimen
10/05/2018
Mapped the harmonized files created by the DRC to the source genomic files’ sequencing experiment. This allows both source & harmonized files to be searchable when filtering on Experiment Strategy.
09/18/2018
Fixed participant with missing family ID. PT_BX9B2A7T now has the correct family ID Updated participant consent types to align with dbGaP
09/10/2018
Initial version release of this study as part of the Kids First Data Resource Center. Latest dbGaP release notes (linked here)
>
Desorden congenito
Los niños primero: Desnervación craneal sindrómica
Lecturas alineadas
gVCF individuales
Cáncer
Los niños primero: Sarcoma de Ewing – Riesgo genético
Lecturas alineadas
gVCF individuales
Data shape changes to support the Kids First Data Resource Portal
05/24/2019
Initial release of family-based VCFs
Data shape changes to support the Kids First Data Resource Portal
Updated consents & ACLS in accordinace with latest dbGaP release
Added in FY16 samples in coordination with latest dbGaP release Added in GRCh38 harmonized data for both FY15 & FY16 samples. This adds back the missing reads in the q-arm of ChrX
02/08/2019
Removed all GRCh38 harmonized data per latest Known Issue impacted by the missing reads in the q-arm of ChrX
02/05/2019
Major release for back end structural changes in preparation to release family-based joint genotyping files
11/05/2018
Published major release to account for underlying data model changes to add method_of_sample_procurement on biospecimen and to make HPO terms searchable by their standard name alongside their code
10/11/2018
Released data model change to move Consent Type from Participant to Biospecimen
10/05/2018
Mapped the harmonized files created by the DRC to the source genomic files’ sequencing experiment. This allows both source & harmonized files to be searchable when filtering on Experiment Strategy.
09/18/2018
The study was successfully decoupled from its parent study. As part of this, the data is now downloadable from the portal for those who have been granted dbGaP access. Updated participant consent types to align with dbGaP.
09/10/2018
Initial versioned release of this study as part of the Kids First Data Resource Center https://commonfund.nih.gov/kidsfirst/2015X01projects#Seidman
>
Desorden congenito
Los niños primero: Defectos cardíacos congénitos
Lecturas alineadas
gVCF individuales
VCF de base familiar
06/21/2019
Removed family-based VCF for family GMKF0695 containing participants PA2026, PA2028, PA2027 as one participant had genomic QC issues
05/28/2019
Data shape changes to support the Kids First Data Resource Portal
05/24/2019
Initial release of family-based VCFs
04/29/2019
Data shape changes to support the Kids First Data Resource Portal
04/10/2019
Added additional samples to the study in conjunction with dbGaP release Added back harmonized data for the files removed on 2/8/19
02/08/2019
Removed the following GRCh38 harmonized files per latest Known Issue impacted by the missing reads in the q-arm of ChrX (listed here)
02/05/2019
Major release for back end structural changes in preparation to release family-based joint genotyping files Removed small number of participants for further genomic QC review (listed here)
11/05/2018
Originally IA3006 was proband with parents IA3004 and IA3005. Now, IA3004 is proband with parents IA3005 and IA3006 Published major release to account for underlying data model changes to add method_of_sample_procurement on biospecimen and to make HPO terms searchable by their standard name alongside their code.
10/11/2018
Released data model change to move Consent Type from Participant to Biospecimen.
10/05/2018
Mapped the harmonized files created by the DRC to the source genomic files’ sequencing experiment. This allows both source & harmonized files to be searchable when filtering on Experiment Strategy.
09/18/2018
Removed the following biospecimens due to QC issues found during genomic data review. External Participant & Sample ID -> Exclusion Reason MD0031 -> Uncertain Identity of samples MD0032 -> Uncertain Identity of samples MD0033 -> Uncertain Identity of samples MD0280 -> Uncertain Identity of samples MD0281 -> Uncertain Identity of samples MD0282 -> Uncertain Identity of samples PA2063 -> Uncertain identity of sample PA2027 -> Uncertain identity of sample PA2200 -> High missing rate PA2254 -> Duplicate of another sample IA2650 -> Uncertain identity of samples IA2651 -> Uncertain identity of samples IA2652 -> Uncertain identity of samples IA2836 -> Uncertain identity of samples IA2837 -> Uncertain identity of samples IA2838 -> Uncertain identity of samples IA4062 -> High missing rate MD3181 -> High Het/Hom ratio IA4019 -> High missing rate IA4022 -> High missing rate IA3038 -> Definitely unrelated to offspring IA4054 -> High missing rate
09/10/2018
Initial versioned release of this study as part of the Kids First Data Resource Center. Latest dbGaP release notes found here.
>
Removed family-based VCF for family GMKF0695 containing participants PA2026, PA2028, PA2027 as one participant had genomic QC issues
05/28/2019
Data shape changes to support the Kids First Data Resource Portal
05/24/2019
Initial release of family-based VCFs
04/29/2019
Data shape changes to support the Kids First Data Resource Portal
04/10/2019
Added additional samples to the study in conjunction with dbGaP release Added back harmonized data for the files removed on 2/8/19
02/08/2019
Removed the following GRCh38 harmonized files per latest Known Issue impacted by the missing reads in the q-arm of ChrX (listed here)
02/05/2019
Major release for back end structural changes in preparation to release family-based joint genotyping files Removed small number of participants for further genomic QC review (listed here)
11/05/2018
Originally IA3006 was proband with parents IA3004 and IA3005. Now, IA3004 is proband with parents IA3005 and IA3006 Published major release to account for underlying data model changes to add method_of_sample_procurement on biospecimen and to make HPO terms searchable by their standard name alongside their code.
10/11/2018
Released data model change to move Consent Type from Participant to Biospecimen.
10/05/2018
Mapped the harmonized files created by the DRC to the source genomic files’ sequencing experiment. This allows both source & harmonized files to be searchable when filtering on Experiment Strategy.
09/18/2018
Removed the following biospecimens due to QC issues found during genomic data review. External Participant & Sample ID -> Exclusion Reason MD0031 -> Uncertain Identity of samples MD0032 -> Uncertain Identity of samples MD0033 -> Uncertain Identity of samples MD0280 -> Uncertain Identity of samples MD0281 -> Uncertain Identity of samples MD0282 -> Uncertain Identity of samples PA2063 -> Uncertain identity of sample PA2027 -> Uncertain identity of sample PA2200 -> High missing rate PA2254 -> Duplicate of another sample IA2650 -> Uncertain identity of samples IA2651 -> Uncertain identity of samples IA2652 -> Uncertain identity of samples IA2836 -> Uncertain identity of samples IA2837 -> Uncertain identity of samples IA2838 -> Uncertain identity of samples IA4062 -> High missing rate MD3181 -> High Het/Hom ratio IA4019 -> High missing rate IA4022 -> High missing rate IA3038 -> Definitely unrelated to offspring IA4054 -> High missing rate
09/10/2018
Initial versioned release of this study as part of the Kids First Data Resource Center. Latest dbGaP release notes found here.
>
Desorden congenito
Los niños primero: Hendidura Orofacial – Ascendencia europea
Lecturas alineadas
gVCF individuales
VCF de base familiar
Cáncer
Atlas de tumores cerebrales pediátricos: CBTTC
Lecturas alineadas
VCF
Desorden congenito
Los niños primero: Hernia diafragmática congénita
Lecturas alineadas
gVCF individuales
Abierto DIPG ICR Londres
IDAT
GPR
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Instituciones asociadas a Kids First
El centro de recursos de datos Kids First (“RDC”) comprende instituciones asociadas respaldadas por el Fondo Común de los NIH con el número de premio U2CHL138346 como parte del Programa de Investigación Pediátrica Gabriella Miller Kids First del Fondo Común (“Los niños primero”). Todo el contenido, términos y condiciones y políticas asociadas con el portal y el sitio web de DRC (los servicios") son producidos por la RDC. Los puntos de vista y opiniones de los autores expresados en los Servicios no necesariamente expresan ni reflejan los de los Institutos Nacionales de Salud. ("NIH") o los EE.UU.. gobierno. Además, Los NIH no respaldan ni promocionan ninguna entidad de la República Democrática del Congo ni ninguno de sus productos o servicios, ni garantizan los productos., servicios, o información proporcionada por la DRC.
© 2024 Gabriella Miller Centro de recursos de datos Kids First. Reservados todos los derechos.