Release notes

Recently published apps

We have published six tools from the BEDTools 2.30.0 toolkit:

• BEDTools Coverage - returns the depth and breadth of coverage of features from B on the intervals in A.

• BEDTools Genomecov - computes histograms of feature coverage for a given genome.

• BEDTools GetFasta - extracts sequences from a FASTA file for each of the intervals defined in a BED/GFF/VCF file.

• BEDTools Intersect - screens for overlaps between two sets of genomic features.

• BEDTools Merge - combines overlapping or “book-ended” features in an interval file into a single feature.

• BEDTools Sort - sorts a feature file by chromosome and other criteria.

We have also published the Functional Equivalence Evaluation workflow for comparing the functional equivalence of different WGS/WES processing analyses. Functional Equivalence Evaluation workflow is used to establish if the results can be used together (compared, merged) in downstream analyses (common scenario with large, multi-center sequencing studies where different institutions use their own analysis protocols) or considered equally valid for drawing conclusions.