e90f5a2fd5cdd909496615dacb99216c05dcfde1 angie Wed Aug 9 13:42:51 2017 -0700 new util vcfToHgvs: translate genomic variants from VCF into HGVS terms using latest RefSeq transcript PSL, CDS and sequence. Tested against Personalis's "ground truth set", see PMID:28122645 and https://github.com/AngieHinrichs/hgvslib/. refs #19968 diff --git src/hg/utils/makefile src/hg/utils/makefile index 04eacf4..5d53f96 100644 --- src/hg/utils/makefile +++ src/hg/utils/makefile @@ -55,50 +55,54 @@ SCRIPT_FILES = \ dbNsfpToBed.pl \ dumpDb.pl \ mergeOverlapBed4.pl \ mergeSortedBed3Plus.pl \ ${USER_APP_SCRIPTS} APP_SCRIPTS = ${SCRIPT_FILES} # List of directories to build of interest only at UCSC DIRS = ${buildRefresh} \ automation \ buildReleaseLog \ checkUrlsInTable \ geoMirrorNode \ + hgvsToVcf \ makeTrackIndex \ mysqlSecurityCheck \ pslUniq \ refSeqGet \ safePush \ toDev64 \ + vcfToHgvs \ wigBedToStep TEST_DIRS = \ genePredFilter \ genePredToProt \ gff3ToGenePred \ gff3ToPsl \ gtfToGenePred \ + hgvsToVcf \ hubCheck \ overlapSelect \ pslMap \ pslToBigPsl \ refSeqGet \ - transMapPslToGenePred + transMapPslToGenePred \ + vcfToHgvs APPS = $(DIRS) $(UTILS_APPLIST) all:: utils utils: $(APPS:%=%.utils) $(APP_SCRIPTS:%=%.appScript) %.utils: cd $* && echo $* && $(MAKE) %.appScript: chmod +x $* rm -f ${DESTDIR}${SCRIPTS}/$* cp -p $* ${DESTDIR}${SCRIPTS}/$* userApps: $(UTILS_APPLIST:%=%.userApp) $(USER_APP_SCRIPTS:%=%.userAppScript) %.userApp: