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kids-first.yaml
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Name: Gabriella Miller Kids First Pediatric Research Program (Kids First)
Description: >
The NIH Common Fund's Gabriella Miller Kids First Pediatric Research Program’s
(“Kids First”) vision is to “alleviate suffering from childhood cancer and
structural birth defects by fostering collaborative research to uncover the
etiology of these diseases and by supporting data sharing within the pediatric
research community.” The program continues to generate and share whole genome
sequence data from thousands of children affected by these conditions, ranging
from rare pediatric cancers, such as osteosarcoma, to more prevalent
diagnoses, such as congenital heart defects. In 2018, Kids First launched the
Gabriella Miller Kids First Data Resource Center, charged with building a
large-scale data platform supporting clinical and genetic data from these
patients and their families in order to accelerate discovery and ultimately
clinical impact. Researchers can search, access, aggregate, and analyze these
data through the Kids First Data Resource Portal. Additionally, by using
cloud-based individual workspaces in CAVATICA, a data analysis and sharing
computation platform, researchers can cross-analyze Kids First data with data
from other efforts, such as NCI’s TARGET program and consortia-based datasets
like the Children’s Brain Tumor Tissue Consortium (CBTTC).
Kids First is made available on AWS via the [NIH STRIDES Initiative](https://aws.amazon.com/blogs/publicsector/aws-and-national-institutes-of-health-collaborate-to-accelerate-discoveries-with-strides-initiative/).
Documentation: https://kidsfirstdrc.org/
Contact: [email protected]
ManagedBy: "[The Gabriella Miller Kids First Data Resource Center at the Children's Hospital of Philadelphia](https://kidsfirstdrc.org/)"
UpdateFrequency: |
Data is updated on a rolling basis by the KFDRC to make data available as
rapidly as possible under the NIH Genomic Data Sharing Policy.
Tags:
- aws-pds
- life sciences
- cancer
- genetic
- genomic
- Homo sapiens
- pediatric
- structural birth defect
- whole genome sequencing
- STRIDES
License: "NIH Genomic Data Sharing Policy: https://gdc.cancer.gov/access-data/data-access-policies"
Resources:
- Description: "Kids First: Pediatric Research Project on the Genomic Analysis of Congenital Diaphragmatic Hernia"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-46sk55a3
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001110.v2.p1
- Description: "National Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Gabriella Miller Kids First Pediatric Research Program of the Pediatric Cardiac Genetics Consortium (PCGC)"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-preasa7s
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001138.v3.p2
- Description: "Gabriella Miller Kids First (GMKF) Pediatric Research Program in Susceptibility to Ewing Sarcoma Based on Germline Risk and Familial History of Cancer"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-ygva0e1c
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001228
- Description: "Kids First: Genomic Studies of Orofacial Cleft Birth Defects"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-9pyzahhe
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001168.v2.p2
- Description: "GMKF: Kids First Pediatric Research Program on Congenital Cranial Dysinnervation Disorders and Related Birth Defects"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-dztb5hrr
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001247.v1.p1
- Description: "Kids First: Pediatric Research Project on Adolescent Idiopathic Scoliosis"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-rm8afw0r
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001410.v1.p1
- Description: "Disorders/Differences of Sex Development (DSD) Study Performed at UCLA in Collaboration with the DSD-Translational Research Network (DSD-TRN), with the Support of the Gabriella Miller Kids First Pediatric Research Program"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-6fpyjqbr
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001178.v1.p1
- Description: "Kids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-r0eprsgs
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001420.v1.p1
- Description: "Kids First: Genomics of Orofacial Cleft Birth Defects in Latin American Families"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-r0eprsgs
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001420.v1.p1
- Description: "Discovering the Genetic Basis of Human Neuroblastoma: A Gabriella Miller Kids First Pediatric Research Program (Kids First) Project"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-dypmehhf
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001436.v1.p1
- Description: "Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-7nq9151j
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001987.v1.p1
- Description: "Kids First Pediatric Research Study in Familial Predisposition to Hematopoietic Malignancies (SJFAMILY-HM)"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-vttshwv4
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001738.v1.p1
- Description: "Gabriella Miller Kids First Pediatric Research Program in Whole Genome Sequencing of African and Asian Orofacial Clefts Case-Parent Triads"
ARN: arn:aws:s3:::kf-study-us-east-1-prd-sd-dk0krwk8
Region: us-east-1
Type: S3 Bucket
ControlledAccess: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001997.v1.p1
DataAtWork:
Tools & Applications:
- Title: Kids First DRC Portal
URL: https://portal.kidsfirstdrc.org
AuthorName: Kids First DRC
AuthorURL: https://kidsfirstdrc.org
- Title: CAVATICA
URL: http://cavatica.org
AuthorName: Seven Bridges Genomics
AuthorURL: http://www.sevenbridges.com
- Title: PedcBioPortal
URL: https://pedcbioportal.kidsfirstdrc.org
AuthorName: cBioPortal
AuthorURL: https://www.cbioportal.org/
- Title: Kids First DRC Source Code
URL: https://github.com/kids-first/
AuthorName: Kids First DRC
AuthorURL: https://kidsfirstdrc.org
Publications:
- Title: Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
URL: https://pubmed.ncbi.nlm.nih.gov/32574564/
AuthorName: Madison R Bishop, Kimberly K Diaz Perez, et al.
- Title: Genomic Analyses Implicate Noncoding De Novo Variants in Congenital Heart Disease.
URL: https://pubmed.ncbi.nlm.nih.gov/32601476/
AuthorName: Felix Richter, Sarah U Morton, et al.
- Title: Elucidation of de novo small insertion/deletion biology with parent-of-origin phasing.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31898844
AuthorName: Allison H Seiden, Felix Richter, et al.
- Title: Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31848685
AuthorName: Nandita Mukhopadhyay, Madison Bishop, et al.
- Title: Germline microsatellite genotypes differentiate children with medulloblastoma.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31562520
AuthorName: Samuel Rivero-Hinojosa, Nicholas Kinney, et al.
- Title: Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31474320
AuthorName: Laura Egolf, Zalman Vaksman, et al.
- Title: "MAGEL2-Related Disorders: A study and case series."
URL: http://www.ncbi.nlm.nih.gov/pubmed/31397880
AuthorName: Jameson Patak, James Gilfert, et al.
- Title: Phenotype delineation of ZNF462 related syndrome.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31361404
AuthorName: Paul Kruszka, Tommy Hu, et al.
- Title: Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31255796
AuthorName: Fengqi Chang, Fumin Lin, et al.
- Title: Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31211835
AuthorName: Mary C Whitman, Noriko Miyake, et al.
- Title: Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
URL: http://www.ncbi.nlm.nih.gov/pubmed/31206972
AuthorName: Suzanna G M Frints, Friederike Hennig, et al.
- Title: "The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution."
URL: http://www.ncbi.nlm.nih.gov/pubmed/30930166
AuthorName: Deanne M Taylor, Bruce J Aronow, et al.
- Title: MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance
URL: https://pubmed.ncbi.nlm.nih.gov/30471716/
AuthorName: William B Dobyns, Kimberly A Aldinger, et al.
- Title: Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy
URL: https://pubmed.ncbi.nlm.nih.gov/30322880/
AuthorName: Eshini Panditharatna, Lindsay B Kilburn, et al.
- Title: Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
URL: https://pubmed.ncbi.nlm.nih.gov/30098192/
AuthorName: Sherin Shaaban, Sarah MacKinnon et al.