Here be Dragons: Gaps in the human genome and how inverting the analysis can help

A composite photograph of the chromosomes of a human male, called a karyotype.
A composite photograph of the chromosomes of a human male, called a karyotype.

Short roads, long roads

Taking the shortcut

A read pileup visualized by IGV. Short reads overlap to build up a contiguous assembly.
A read pileup visualized by IGV. Short reads overlap to build up a contiguous assembly.

Miles still to go

Fork in the road

A map of all maps: graph references

A (tiny) portion of a graph genome visualized by sequenceTubeMap
A (tiny) portion of a graph genome visualized by sequenceTubeMap

BioGraph: map the reference, graph the reads

Average structural variant performance of BioGraph vs. Manta and Parliament2 across five technical replicates. Further details are available in the BioGraph whitepaper.
Average structural variant performance of BioGraph vs. Manta and Parliament2 across five technical replicates. Further details are available in the BioGraph whitepaper.

Where to next?

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