Genome Analysis Toolkit

Variant Discovery in High-Throughput Sequencing Data

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Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping. Its powerful processing engine and high-performance computing features make it capable of taking on projects of any size. Learn more

Custom made Panel of Normals required?



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    Genevieve Brandt (she/her)

    Hi Pedro Miguel Raposo, we would recommend creating a PON using what little BGI data you have. The data from the BGI sequencer is likely to be significantly different from Illumina data in terms of error modes, so it is unlikely to work well if you use a generic PON. It could end up filtering out real sites and cause a slight loss in sensitivity.

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    Pedro Miguel Raposo

    Thank you

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