通过“儿童优先”数据支持您的研究, 工具和资源. 探索丰富的儿童癌症收藏, 先天性疾病, 和交叉条件数据现已可用.
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癌症
先天性疾病
交叉条件
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先天性疾病
孩子第一: 染色体 18 结构性出生缺陷
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单独的 gVCF
先天性疾病
孩子第一: 隐性结构性脑缺陷
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 食管闭锁和气管食管瘘
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先天性疾病
孩子第一: 神经管的结构缺陷
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单独的 gVCF
基于家庭的 VCF
癌症
孩子第一: 颅内生殖细胞肿瘤
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 胎儿酒精谱系障碍
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 口面部裂痕 – 菲律宾
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 电荷综合症
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 偏侧性出生缺陷
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 膀胱外翻, 尿道上裂, 复杂的
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 科妮莉亚·德·朗格综合症
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单独的 gVCF
基于家庭的 VCF
癌症
孩子第一: T细胞ALL
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单独的 gVCF
VCF
基因表达 TSV
交叉条件
孩子第一: 白血病 & 唐氏综合症的心脏缺陷
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单独的 gVCF
基于家庭的 VCF
癌症
孩子第一: 骨髓恶性肿瘤
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 血管瘤 (PHACE)
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 非综合征性颅缝早闭
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单独的 gVCF
基于家庭的 VCF
交叉条件
孩子第一: 癌症的交叉点 & SBD
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单独的 gVCF
基于家庭的 VCF
癌症
目标: 急性髓系白血病
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先天性疾病
孩子第一: 小耳症 – 西班牙裔
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先天性疾病
孩子第一: 肾脏和尿路缺陷
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单独的 gVCF
基于家庭的 VCF
先天性疾病
孩子第一: 颅面微小症
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单独的 gVCF
基于家庭的 VCF
癌症
孩子第一: 骨肉瘤
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癌症
孩子第一: 家庭中新的癌症易感性 (从 BASIC3)
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单独的 gVCF
基于家庭的 VCF
未对齐读取
先天性疾病
孩子第一: 口面裂 – 非洲和亚洲血统
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单独的 gVCF
癌症
孩子第一: 家族性白血病
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未对齐读取
VCF
癌症
孩子第一: 内生软骨瘤病
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未对齐读取
VCF
癌症
孩子第一: 成神经细胞瘤
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单独的 gVCF
基于家庭的 VCF
未对齐读取
基因表达 TSV
癌症
儿童脑肿瘤图谱: 菲律宾国家石油公司
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基因表达 TSV
带注释的体细胞突变
基因融合
体细胞拷贝数变异
同种型表达
先天性疾病
孩子第一: 口面裂 – 拉丁美洲人
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单独的 gVCF
基于家庭的 VCF
癌症
目标: 成神经细胞瘤
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先天性疾病
孩子第一: 性发育障碍
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单独的 gVCF
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
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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
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先天性疾病
孩子第一: 青少年特发性脊柱侧弯
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单独的 gVCF
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)
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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)
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先天性疾病
孩子第一: 颅神经神经缺失综合征
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单独的 gVCF
癌症
孩子第一: 尤文肉瘤 – 遗传风险
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单独的 gVCF
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
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先天性疾病
孩子第一: 先天性心脏缺陷
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单独的 gVCF
基于家庭的 VCF
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.
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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.
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先天性疾病
孩子第一: 口面裂 – 欧洲血统
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单独的 gVCF
基于家庭的 VCF
癌症
儿童脑肿瘤图谱: 中国贸易技术委员会
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VCF
先天性疾病
孩子第一: 先天性膈疝
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单独的 gVCF
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儿童第一数据资源中心 (“刚果民主共和国”) 由 NIH 共同基金支持的合作机构组成，奖励编号为 U2CHL138346，作为共同基金 Gabriella Miller Kids First 儿科研究计划的一部分 (“孩子第一”). 所有内容, 与 DRC 门户和网站相关的条款和条件以及政策 (“服务”) 由刚果民主共和国生产. 作者在服务中表达的观点和意见并不一定代表或反映美国国立卫生研究院的观点和意见 (“NIH”) 或美国. 政府. 此外, NIH 不认可或推广任何 DRC 实体或其任何产品或服务，也不对产品提供保证, 服务, 或刚果民主共和国提供的信息.
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