For more reading that is complementary to (and mostly in agreement w/) this benchmarking study, check out: https://t.co/FCiDhGZ9TT (tons of data in supplement) https://t.co/VjfYR3uuv0 (especially Fig 4) https://t.co/KmY9AWWjF4
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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. https://t.co/lVmiSu5hUK #Neuralstemcells
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@serghei_mangul @dgmacarthur @TalkowskiLab Good questions! "gnomAD-SV" = the name of the dataset (not the methods). You're right re: consensus across multiple callers. Methods used here based largely on Werling et al., 2018 (https://t.co/qa7l6xH4Iv), which
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#Research reading: An analytical framework for whole-genome sequence association studies and its implications for #autism spectrum disorder - https://t.co/6G9xAXa2ag