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NHGRI Extramural Genomic Data Sharing Plan and …

NHGRI Extramural Genomic Data Sharing Plan and dbGaP Submission Information Version 2021-01-21 In order for the NIH National Human Genome Research Institute (NHGRI) to register your data into the dbGaP Submission System, please provide the information listed below and return to your NHGRI Program Officer (PO) or Genomic Program Administrator (GPA).

Genome.gov   DA: 14 PA: 50 MOZ Rank: 65

Genome Sequencing Program

  • Data Release Policies for the NHGRI GSP NHGRI requires all programs and projects to release sequence and related data to appropriate databases ( dbGaP )
  • NHGRI requires rapid pre-publication release of all organismal sequence data and assemblies, and human data in a manner consistent with the terms of consent under which samples were …

Genome.gov   DA: 14 PA: 50 MOZ Rank: 66

PheGenI: Phenotype-Genotype Integrator

  • The Phenotype-Genotype Integrator (PheGenI), merges NHGRI genome-wide association study (GWAS) catalog data with several databases housed at the National Center for Biotechnology Information (NCBI), including Gene, dbGaP, OMIM, eQTL and dbSNP
  • This phenotype-oriented resource, intended for clinicians and epidemiologists

Ncbi.nlm.nih.gov   DA: 20 PA: 12 MOZ Rank: 35

Barbara Thomas, Ph.D.

  • She also chairs the NHGRI Data Access Committee (DAC), which evaluates data access requests for NHGRI datasets in dbGaP
  • degree in Microbiology from the Pennsylvania State University and a Ph.D
  • in Human Genetics and Development from Columbia University.

Genome.gov   DA: 14 PA: 25 MOZ Rank: 43

NOT-HG-19-024: Notice of New NIH-Designated Data

  • Notice Number: NOT-HG-19-024 Key Dates Release Date: July 05, 2019 Related Announcements None Issued by National Human Genome Research Institute ()Purpose
  • The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space, or ‘AnVIL,’ is a secure, cloud-based environment where researchers will be able to store, share, and analyze …

Grants.nih.gov   DA: 14 PA: 45 MOZ Rank: 64

RFA-HG-07-014: Epidemiologic Investigation of Putative

NHGRI expects that b eginning on the date that descriptive and association data on a given variant are released for distribution through a database such as dbGaP, the dates of which will be identified and tracked by the CC, there will be a period of nine months during which Investigators retain the exclusive right to submit publications

Grants.nih.gov   DA: 14 PA: 42 MOZ Rank: 62

NIH Launches dbGaP, a Database of Genome Wide Association

  • "The dbGaP project marks a new milestone in data sharing," said NLM Director Donald A
  • "Researchers, students and the public will have access to a level of study detail that was not previously available and to genotype-phenotype associations that should provide a wealth of hypothesis-generating leads," he said.

Nih.gov   DA: 11 PA: 50 MOZ Rank: 68

NIH issues finalized policy on genomic data sharing

  • Under the GWAS policy, more than 2,200 investigators from 41 different countries have received access to dbGaP data from 304 studies and produced more than 900 publications
  • A report on genomic data sharing through dbGaP under the GWAS policy appears in the Aug
  • 27, 2014, advance online issue of Nature Genetics.

Nih.gov   DA: 11 PA: 50 MOZ Rank: 69

NCBI’s Database of Genotypes and Phenotypes: dbGaP

  • The Phenotype-Genotype Integrator (PheGenI) merges NHGRI GWAS catalog data with several databases housed at the National Center for Biotechnology Information (NCBI), including Gene, dbGaP, OMIM, GTEx and dbSNP
  • This phenotype-oriented resource, intended for clinicians and epidemiologists interested in following up results from GWAS, can

Academic.oup.com   DA: 16 PA: 31 MOZ Rank: 56

The Ethics of Genetic Incidental Findings

  • reflect the official views of the NHGRI, NIH, or DHHS
  • Roadmap • Background: next-generation sequencing • Incidental findings in genetic research • GWAS = genome-wide association studies • SNP = single nucleotide polymorphism • dbGaP = database of Genotypes and Phenotypes • WES = whole exome sequencing • WGS = whole genome

Bioethics.nih.gov   DA: 17 PA: 50 MOZ Rank: 77

Genotype-Tissue Expression (GTEx)

The GTEx Portal has been updated to data release V8 (dbGaP accession phs000424.v8.p2)! This release includes genotype data from approximately 948 post-mortem donors and approximately 17,382 RNA-seq samples across 54 tissue sites and 2 cell lines, with adequate power to detect Expression Quantitative Trait Loci in 48 tissues.

Commonfund.nih.gov   DA: 18 PA: 5 MOZ Rank: 34

(PDF) dbGaP Data Access Requests: A Call for Greater

  • To this end, we manually reviewed 2724 data access requests approved between June 2007 and August 2010 through the U.S
  • National Center for Biotechnology Information NIH-PA Author Manuscript (NCBI) database of genotypes and phenotypes (dbGaP)
  • Our analysis demonstrates that dbGaP enables a wide range of secondary research by investigators from

Academia.edu   DA: 16 PA: 50 MOZ Rank: 78

RFA-HG-19-014: The Electronic Medical Records and Genomics

NHGRI intends that Project Datasets (including clinical, phenotypic, and other relevant data) and associated genomic data from this study will be widely shared with the scientific community for research uses through NIH-supported databases, such as …

Grants.nih.gov   DA: 14 PA: 42 MOZ Rank: 69

dbGaP Data Access Requests: A Call for Greater Transparency

  • This work was supported in part by NHGRI grant number P50-HG-3374 (to W
  • Rodriguez, Director of the Office of Policy, Communications, and Education at the National Human Genome Research Institute, for her assistance with obtaining collated lay and technical descriptions of dbGaP DARs.

Science.org   DA: 15 PA: 33 MOZ Rank: 62

Genome-Wide Association Study on Parkinson's Disease Finds

"It's wonderful that NHGRI has agreed to facilitate access to this data by researchers around the globe working on Parkinson's disease," said Demetrius Maraganore, M.D., a neurologist at Mayo Clinic and lead principal investigator who provided the Mayo-Perlegen LEAPS data to the dbGaP database on behalf of his collaborators.

Nih.gov   DA: 11 PA: 50 MOZ Rank: 76

The Database of Genotypes and Phenotypes (dbGaP) Coriell

  • A detailed User’s Guide for the AREDS phenotype data in the dbGaP is also available
  • This User's Guide is meant to be a comprehensive document which explains the complexities of the AREDS data
  • It is recommended that all researchers using the AREDS phenotype data make use of this User's Guide
  • Genetic samples from 600 AREDS participants (200

Coriell.org   DA: 11 PA: 32 MOZ Rank: 59

NHGRI Points to Consider for IRBs and Institutions in

  • access procedures for NHGRI MSP data will be essentially identical (with differences outlined below) to that used for GWAS
  • • As with GWAS data, data from NHGRI MSP will be available via the National Center for Biotechnology Information (NCBI) in dbGaP with access controlled by an NIH Data Access Committee (DAC).

Genome.gov   DA: 14 PA: 50 MOZ Rank: 81

Jackson Heart Study (JHS) dbGaP Acknowledgment Statements

  • Jackson Heart Study (JHS) dbGaP Acknowledgment Statements
  • The acknowledgment of the JHS dataset(s) should always include acknowledgment of the JHS contract (component I below) AND the genotypic/genomic dataset(s) (component II below), along with their relevant dbGaP accession number(s).

Dbgap.ncbi.nlm.nih.gov   DA: 22 PA: 17 MOZ Rank: 57

Notice of New NIH-Designated Data Repository: NHGRIs

  • AnVIL serves the primary data repository NHGRI-funded genomic datasets submitted sharing after March 2019
  • AnVIL also include datasets submitted NIH prior March 2019 reside within database Genotypes Phenotypes dbGaP); those data be moved AnVIL appropriate.

Datascience.nih.gov   DA: 19 PA: 50 MOZ Rank: 88

Alignment for CR936367.5 and CR450713.16

  • Download Genome Workbench Swap Rows Rotate Orientations
  • CR936367.5 Zebrafish DNA sequence from clone CH211-166I24 in linkage group 21, complete sequence [htgs_phase3]
  • CR450713.16 Zebrafish DNA sequence from clone DKEY-264H9 in linkage group 21, complete sequence [htgs_phase3]

Dbgap.ncbi.nlm.nih.gov   DA: 22 PA: 50 MOZ Rank: 92

About the Data Use Oversight System (DUOS) Pilot Data

  • NHGRI and NIAID DACs are testing DUOS with new requests for controlled-access datasets hosted by NIH data repositories (these requests were also processed using the current dbGaP access procedures)
  • Researchers are invited to volunteer to use DUOS interfaces when submitting new data access requests.

Datascience.nih.gov   DA: 19 PA: 25 MOZ Rank: 65

NIH completes atlas of human DNA differences that

  • NHGRI is devoted to advancing health through genome research
  • The Institute led NIH’s contribution to the Human Genome Project, which was successfully completed in 2003 ahead of schedule and under budget.

Nih.gov   DA: 11 PA: 50 MOZ Rank: 83

Chromosome-scale scaffolding of de novo genome assemblies

  • Genomes assembled de novo from short reads are highly fragmented relative to the finished chromosomes of Homo sapiens and key model organisms generated by the Human Genome Project
  • To address this problem, we need scalable, cost-effective methods to obtain assemblies with chromosome-scale contiguity …

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 56

NHGRI AnVIL Cloud Platform Now Supports Free Export of

  • NHGRI AnVIL Cloud Platform Now Supports Free Export of GTEx Data Posted: November 20, 2020
  • One of the most widely-used resources for studying the relationship between genetic variation and gene expression is the Genotype-Tissue Expression (GTEx) project.Established by the NIH Common Fund in 2010, the recent GTEx V8 dataset represents …

Anvilproject.org   DA: 16 PA: 50 MOZ Rank: 90

NIH-SOAR-NHGRI-Scientific Program Analyst in Bethesda

  • Scientific Program AnalystOverall Position Summary and Objectives: Under this task order, the contractor will independently provide support services to satisfy the overall operational objectives of the National Human Genome Research Institute (NHGRI)
  • The primary objective is to provide services and deliverables through performance of support services

Jobs-axleinfo.icims.com   DA: 23 PA: 50 MOZ Rank: 98

NHGRI Funds Next Step in Understanding Biological Roots of

The National Human Genome Research Institute, one of the National Institutes of Health, today announced grants expected to total about $31 million over the next four years for research aimed at gaining a better understanding of how specific genetic variants act to influence the risk of diabetes, heart disease, cancer and other common diseases.

Nih.gov   DA: 11 PA: 50 MOZ Rank: 87

NIH-SOAR-NHGRI-Scientific Program Analyst Job in Bethesda

  • NIH-SOAR-NHGRI-Scientific Program Analyst
  • ID 2021-2364 # of Openings 1 Category Computer Science/Bioinformatics
  • Under this task order, the contractor will independently provide support services to satisfy the overall operational objectives of the National Human Genome Research Institute (NHGRI)
  • The primary objective is to provide services

Ziprecruiter.com   DA: 20 PA: 50 MOZ Rank: 97

Exome Sequence Analysis Suggests that Genetic Burden

  • Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy
  • Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 4 …

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 61

Axle Informatics hiring NIH-SOAR-NHGRI-Scientific Program

Systematically check the NHGRI DAC email inbox for questions, updates, inquires, or issues related to the NHGRI DAC; provide information about data …

Linkedin.com   DA: 16 PA: 50 MOZ Rank: 95

Open Domain-Specific Data Sharing Repositories

The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL) is a scalable and interoperable resource for the genomic scientific community, that leverages a cloud-based infrastructure for democratizing genomic data access, sharing and computing across large genomic, and genomic-related data sets.

Nlm.nih.gov   DA: 15 PA: 42 MOZ Rank: 87

Collaborators ADSP

  • The ADSP Discovery Phase is comprised of five groups--two large, independent genetics consortia: the NIA-funded Alzheimer’s Disease Genetics Consortium (ADGC) and the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE); and three NHGRI-funded Large-Scale Genome Sequencing and Analysis Centers (LSACs): …

Niagads.org   DA: 15 PA: 27 MOZ Rank: 73

Phenotype–Genotype Integrator (PheGenI): synthesizing

As of 1 March 2013, 54 282 association records from dbGaP and 11 781 from the NHGRI GWAS catalog (66 063 total) are available, corresponding to 30 885 unique rs numbers.

Nature.com   DA: 14 PA: 20 MOZ Rank: 66

Large, three-generation human families reveal post-zygotic

  • The number of de novo mutations (DNMs) found in an offspring's genome increases with both paternal and maternal age
  • But does the rate of mutation accumulation in human gametes differ across families? Using sequencing data from 33 large, three-generation CEPH families, we observed significant variab …

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 66

The NCBI dbGaP database of genotypes and phenotypes

  • dbGaP is a general repository for studies examining the association between phenotype and genotype
  • At the time of writing, dbGaP has 12 public studies at …

Nature.com   DA: 14 PA: 21 MOZ Rank: 69

AboutBaylor-Hopkins Center for Mendelian Genomics

Funding for this study was provided by the Baylor-Hopkins Center for Mendelian Genomics through National Human Genome Research Institute grant 5U54HG006542 The Baylor-Hopkins Center for Mendelian Genomics (BHCMG) is a multi-center collaboration aimed at identifying the genes responsible for mendelian phenotypes by whole exome and whole genome

Mendeliangenomics.org   DA: 21 PA: 6 MOZ Rank: 62

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