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Showing posts with label Annotation. Show all posts
Showing posts with label Annotation. Show all posts

Getting Genetics Done 2012 In Review

Here are links to all of this year's posts (excluding seminar/webinar announcements), with the most visited posts in bold italic. As always, you can follow me on Twitter for more frequent updates. Happy new year!

New Year's Resolution: Learn How to Code

Annotating limma Results with Gene Names for Affy Microarrays

Your Publications (with PMCID) as a PubMed Query

Pathway Analysis for High-Throughput Genomics Studies

find | xargs ... Like a Boss

Redesign by Subtraction

Video Tip: Convert Gene IDs with Biomart

RNA-Seq Methods & March Twitter Roundup

Awk Command to Count Total, Unique, and the Most Abundant Read in a FASTQ file

Video Tip: Use Ensembl BioMart to Quickly Get Ortholog Information

Stepping Outside My Open-Source Comfort Zone: A First Look at Golden Helix SVS

How to Stay Current in Bioinformatics/Genomics

The HaploREG Database for Functional Annotation of SNPs

Identifying Pathogens in Sequencing Data

Browsing dbGAP Results

Fix Overplotting with Colored Contour Lines

Plotting the Frequency of Twitter Hashtag Usage Over Time with R and ggplot2

Cscan: Finding Gene Expression Regulators with ENCODE ChIP-Seq Data

More on Exploring Correlations in R

DESeq vs edgeR Comparison

Learn R and Python, and Have Fun Doing It

STAR: ultrafast universal RNA-seq aligner

RegulomeDB: Identify DNA Features and Regulatory Elements in Non-Coding Regions

Copy Text to the Local Clipboard from a Remote SSH Session

Differential Isoform Expression With RNA-Seq: Are We Really There Yet?

RegulomeDB: Identify DNA Features and Regulatory Elements in Non-Coding Regions

Many papers have noted the challenges associated with assigning function to non-coding genetic variation, and since the majority of GWAS hits for common traits are non-coding, resources for providing some mechanism for these associations are desperately needed.

Boyle and colleagues have constructed a database called RegulomeDB to provide functional assignments to variants using data from manual curation, CHiP-seq data, chromatin state information, eQTLs across multiple cell lines, and some computational predictions generated from DNase footprinting and transcription factor binding motifs.

RegulomeDB implements a tiered category system (1-6) where category 1 has an eQTL association in addition to other ENCODE sources of data, 2 -5 have some ENCODE data only with no eQTL associations, and category 6 has evidence of a binding motif change only. As you might imagine, the annotation density increases as you increase category numbers.



Their simple, but impressive interface will accept RS numbers, or whole BED, GFF, or VCF files for annotation. The resulting output (example above) is downloadable, providing both specifics of the annotation (such as the transcription factor binding to the area) and the functional score for the variant.

http://regulome.stanford.edu/