AlphaMissense scores are available at the - + AlphaMissense cloud storage site. The site provides precomputed AlphaMissense scores for all possible human missense variants to facilitate the identification of pathogenic variants among the large number of rare variants discovered in sequencing studies. -
The AlphaMissense data on the UCSC Genome Browser can be explored interactively with the
Table Browser or the
-Data Integrator.
-For automated download and analysis, the genome annotation is stored at UCSC in bigWig
-files that can be downloaded from
-our download server.
-
+Data Integrator.
+
+For automated download and analysis, the genome annotation is stored at UCSC in
+bigWig format that can be downloaded from
+our download server.
The files for this track are called a.bw, c.bw, g.bw, t.bw. Individual
regions or the whole genome annotation can be obtained using our tool bigWigToWig
which can be compiled from the source code or downloaded as a precompiled
-binary for your system.
-Instructions for downloading source code and binaries can be found
+binary for your system. Instructions for downloading source code and binaries can be found
here.
-
-The tools can also be used to obtain features confined to given range, e.g.
-
-
+For example, to extract only annotations in a given region, you could use the following command:
+
bigWigToBedGraph -chrom=chr1 -start=100000 -end=100500 http://hgdownload.soe.ucsc.edu/gbdb/$db/alphaMissense/a.bw stdout
-
+
Data were converted from the files provided on the AlphaMissense Downloads website. As with all other tracks, a full log of all commands used for the conversion is available in our source repository, for hg19 and hg38. The release used for each assembly is shown on the track description page.
Thanks to