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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

Bins for dp_hist_all_bin_freq

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    Gökalp Çelik

    Hi James Melhorn

    I am not 100% sure about it however it looks like those values are used to display site metrics within gnomAD browser like below. I will ask our variant team and try to come up with a better explanation. 

    Regards. 

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    Gökalp Çelik

    Hi again. 

    I was right about it. Here is a brief showing of how that data is used. 

    This is a sample site 

    Y    21885356    rs1282732903    T    C    159.48    AC0    dp_hist_all_bin_freq=103697|12874|6732|1946|419|63|11|4|1|0|1|0|0|0|0|0|0|0|0|0

    for brevity I removed all other INFO fields. 

    These numbers match to those bins described in the gnomAD v2.1 header section.

    ##INFO=<ID=dp_hist_alt_bin_freq,Number=A,Type=String,Description="Histogram for DP in heterozygous individuals; bin edges are: 0|5|10|15|20|25|30|35|40|45|50|55|60|65|70|75|80|85|90|95|100">
    ##INFO=<ID=dp_hist_alt_n_larger,Number=A,Type=Integer,Description="Count of DP values falling above highest histogram bin edge">
    ##INFO=<ID=dp_hist_all_bin_freq,Number=A,Type=String,Description="Histogram for DP; bin edges are: 0|5|10|15|20|25|30|35|40|45|50|55|60|65|70|75|80|85|90|95|100">
    ##INFO=<ID=dp_hist_all_n_larger,Number=A,Type=Integer,Description="Count of DP values falling above highest histogram bin edge">

    And here is the visual depiction of those numbers.

    When you hover over all the bins in the histogram you should be able to see those numbers that are encoded in the INFO field.

    More information can be obtained from the gnomAD browser page and there is even a support email that you can use to ask further questions to our gnomAD team. 

    I hope this helps. 

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