Closed julesjacobsen closed 3 years ago
Added in 92533382fd63253d16f62c8155563fd932b83fd4
Codes like this:
Variant instance = TestVariant.builder().with(chr1, "", Strand.POSITIVE, CoordinateSystem.ONE_BASED, Position.of(5), "GA", "T").build();
Given the inter-relatedness of the input fields it wasn't really feasible to add them separately and ensure a consistent state, but it is possible to read in a BED/ UCSC transcript file which uses absolute genomic coordinates (i.e. 0-based, + strand) and indicates the actual strand.
e.g.
chr start end strand
1 100 200 -
can be parsed as
GenomicRegion region = GenomicRegion.builder().with(chr1, "", Strand.POSITIVE, CoordinateSystem.ZERO_BASED, Position.of(100), Position.of(200)).withStrand(Strand.NEGATIVE).build();
Again, an Exomiser discovery - I had gone down the route of using the builder pattern for creating variants and it was a bit of a pain to incorporate the svart api into Exomiser using extension, so I created an experimental build to ease integration which enabled this: