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NG00061 - Functional Annotation of genomic variants in studies of LOAD


This reference dataset includes annotations for the ADSP WES Release 3 (Atlas Only) Dataset, WGS V1 Dataset (phs000572.v7.p4).  The dataset can be used to annotate single variant association results, or to generate variant groupings by functional annotation for use in SeqMeta and similar tools. 

The dataset includes the following information:  

* The Ensembl VEP80 Predicted consequence and associated information for all relevant Ensembl transcript models.
* A variant's 'most damaging' VEP80 Predicted consequence for each gene it falls within, computed across all transcripts, across all non-NMD transcripts, and across all protein coding transcripts
* LOF Annotations from SnpEff (4.2) provided by Xueqiu Jian
* CADDv1.2 raw and phred-normalized scores, allele frequencies from the ExACr0.3 and Kaviar-150810-Public resources.
* CATO scores of predicted transcription factor occupancy: http://www.mauranolab.org/CATO/
* Allele presence/absence in the Wellderly Cohort: https://www.stsiweb.org/translational-research/genomic-medicine/wellderly/
* FANTOM5 Expressed Enhancers mapped to local genes via GTEx eQTL associations

No formal application is required. Download dataset using the following link, Download

Molecular Data Type



Submission date: 
PI Information