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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

BQSR Spark: Why Beta?

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    Genevieve Brandt (she/her)

    Tavi Nathanson The reason why BQSR Spark is in BETA is that we have not formally evaluated the results to confirm that it is same as the normal BQSR version. When we do this formal evaluation, it will not be BETA anymore.  However, most likely you will not have any issues with BQSR Spark in terms of the results, there may be spark specific issues, and you can always post on the forum if there are problems. 

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    Tavi Nathanson

    Hi Genevieve Brandt (she/her), thank you for the quick reply. Given that the differences may potentially not be limited to Spark/performance issues, what are you recommending to folks running production pipelines using GATK4 who need to (a) parallelize the BQSR run and (b) ensure correct output?

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    Genevieve Brandt (she/her)

    Tavi Nathanson unfortunately I do not have insight on what would be best in your case since the formal evaluation has not been completed.

    If other users have tested these options please post your thoughts here!

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