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BHSC_Bio_data

Data files for Bar Harbor Short Course

Below is information on the files in this repo that we will use for the Bar Harbor Short Course for Medical Genetics

GitHub

ShortCourseParticipantInfo.md : Markdown file to collect participant info

ShortCourseParticipantInfo.docx : Word file created from markdown file

Excel is your frenemy

In the excel directory:

ref_chr7.tsv : ad hoc tab separated file of gene data

ref_chr7_GRCh37.p10.gff3: GFF3 formatted gene data

modified_LMM_NA12878_PanCardiomyopathy.vcf: variant file in VCF format

Adventures in Sequence Identifiers

In the seqID directory:

ref_chr7_test1.bed: Bed file using NCBI seqIDs

ref_chr7_test2.bed: Bed file using Ensembl style seqIDs

ref_chr7_test3.bed: Bed file using UCSC style seqIDs

ucsc_testGenes.bed: Bed file of genes in GRCh37 coordinates with no track directives

ucsc_testGenes_test2.bed: Bed file of genes in GRCh37 coordinates with a track directive

Remap

In the remap directory: nstd37_ISCA.GRCh37.remap.var.germline.ucsc.gvf: variant file containing CNVs in GVF format