Category Archives: dbGaP Allele Frequency Aggregator (ALFA)

03May / 2022

NCBI Posters at the Biology of Genomes Meeting

May 10-14, 2022 We are looking forward to the Biology of Genomes meeting, which will focus on “DNA sequence variation and its role in molecular evolution, population genetics and complex diseases, comparative genomics, large-scale studies of gene and protein expression, and genomic approaches to ecological systems.” NCBI will present three posters to highlight our Comparative … Continue reading NCBI Posters at the Biology of Genomes Meeting →

The post NCBI Posters at the Biology of Genomes Meeting appeared first on NCBI Insights.

Posted by in CGR, dbGaP Allele Frequency Aggregator (ALFA), What's New

Permalink

21Apr / 2022

NCBI ALFA Project at Bio-IT World 2022 Hackathon

Announcing the Allele Frequency Aggregator (ALFA) Project as part of the Bio-IT World 2022 Hackathon: Visualization of NCBI ALFA Variants Join NCBI at the Bio-IT World 2022 Hackathon on May 4-5, 2022 to learn about and work with data from our ALFA project! The primary goal of this hackathon project is to develop a novel … Continue reading NCBI ALFA Project at Bio-IT World 2022 Hackathon →

The post NCBI ALFA Project at Bio-IT World 2022 Hackathon appeared first on NCBI Insights.

Posted by in ClinVar, Database of human genomic structural variation (dbVar), dbGaP Allele Frequency Aggregator (ALFA), Single Nucleotide Polymorphism Database (dbSNP), What's New

Permalink

25Mar / 2022

Using NCBI resources to research, detect, and treat genetic phenotypes

Clinical Genetics Information at Your Fingertips NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. You can easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. We also encourage you to join our community of thousands of … Continue reading Using NCBI resources to research, detect, and treat genetic phenotypes →

The post Using NCBI resources to research, detect, and treat genetic phenotypes appeared first on NCBI Insights.

Posted by in ACMG2022, clinicaltrials.gov, ClinVar, Database of Genotypes and Phenotypes (dbGaP), dbGaP Allele Frequency Aggregator (ALFA), GeneReviews, Genetic Testing Registry (GTR), MedGen, Medical Genetic Summaries (MGS), medical genetics, Single Nucleotide Polymorphism Database (dbSNP), What's New

Permalink

22Jan / 2021

Allele Frequency Aggregator (ALFA) Release 2 is available!

We are excited to announce the NCBI Allele Frequency Aggregator (ALFA) Release 2 (version 20201027095038) as one of the largest and most comprehensive aggregated variant datasets with allele frequency available as open-access. This release contains 79 dbGaP studies that included 192 thousand subjects and 5.8 trillion combined genotypes that generated allele frequency for 904 million … Continue reading Allele Frequency Aggregator (ALFA) Release 2 is available! →

Posted by in dbGaP Allele Frequency Aggregator (ALFA), What's New

Permalink

19Oct / 2020

NCBI Presents Two Online CoLabs at ASHG 2020!

Two up-and-coming NCBI resources will be featured in videos, surveys and live events at the American Society for Human Genetics (ASHG) 2020 Annual Meeting. Come and watch on-demand videos in the CoLab Theater. Then, let us know what you think and how you do or might use these resources by either taking an online survey … Continue reading NCBI Presents Two Online CoLabs at ASHG 2020! →

Posted by in American Society for Human Genetics (ASHG), Datasets, dbgap, dbGaP Allele Frequency Aggregator (ALFA), dbSNP, dbVar, What's New

Permalink

11Jun / 2020

dbSNP human build 154 release + ALFA data

dbSNP human build 154, now available, includes new ALFA (Allele Frequency Aggregator) variants and allele frequency. This build contains over two billion Submitted SNP (ss) records and 730 million Reference SNP (rs) records. New features include: dbSNP search now support HGVS … Continue reading →

Posted by in dbGaP Allele Frequency Aggregator (ALFA), dbSNP, RefSNP, What's New

Permalink

26Mar / 2020

The ALFA dataset: New aggregated allele frequency from dbGaP and dbSNP now available

NIH’s data sharing policy now allows unrestricted access to genomic summary results for data from NCBI’s Database of Genotypes and Phenotypes (dbGaP).  Pooled allele frequency data from dbSNP and the dbGaP summary results are available as the new Allele Frequency Aggregator … Continue reading →

Posted by in dbGaP Allele Frequency Aggregator (ALFA), dbSNP, human variant data, Variation, What's New

Permalink

17Jan / 2020

NCBI on YouTube: Get the most out of NCBI resources with these videos

Check out the latest videos on YouTube to learn how to best use NCBI graphical viewers, SRA, PGAP, and other resources. Genome Data Viewer: Analyzing Remote BAM Alignment Files and Other Tips This video shows you how to upload remote … Continue reading →

Posted by in 1000 Genomes, API, ClinVar, dbgap, dbGaP Allele Frequency Aggregator (ALFA), dbSNP, DNA-Seq, ExAC, GDV, Genome, Genome Data Viewer, GnomAD, human variant data, PGAP, prokaryotic genome annotation, RNA-Seq, SPDI, SRA, TopMed, What's New, youtube

Permalink

17Jan / 2020

NCBI on YouTube: Get the most out of NCBI resources with these videos

Check out the latest videos on YouTube to learn how to best use NCBI graphical viewers, SRA, PGAP, and other resources. Genome Data Viewer: Analyzing Remote BAM Alignment Files and Other Tips This video shows you how to upload remote … Continue reading →

Posted by in 1000 Genomes, API, ClinVar, dbgap, dbGaP Allele Frequency Aggregator (ALFA), dbSNP, DNA-Seq, ExAC, GDV, Genome, Genome Data Viewer, GnomAD, human variant data, PGAP, prokaryotic genome annotation, RNA-Seq, SPDI, SRA, TopMed, What's New, youtube

Permalink