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feat/bg-18 ACMG - Adding PP2 #195

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feat/bg-18 ACMG - Adding PP2 #195

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@simojoe simojoe commented Aug 4, 2023

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@simojoe simojoe requested a review from jecos August 4, 2023 14:58
Comment on lines +99 to +117
val orphanetDF = orphanet.select("gene_symbol", "average_age_of_onset", "type_of_inheritance")
.withColumn("is_adult_onset", inColArray("average_age_of_onset", onsets))
.filter(col("is_adult_onset") === false)
.withColumn("is_dominant", inColArray("type_of_inheritance", is_dominant_inheritance))
.select(
col("gene_symbol").as("symbol"),
col("is_dominant"))
.distinct()

val freqDF = frequencies
.select(
col("chromosome"),
col("start"),
col("end"),
col("reference"),
col("alternate"),
explode(col("genes_symbol")).as("symbol"),
col("external_frequencies.gnomad_genomes_3_1_1.ac").as("gnomad_ac"),
col("external_frequencies.gnomad_genomes_3_1_1.hom").as("gnomad_hom"))
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Maynbe we should prepare a table offline, and join on this instead of calculating this dataframe each time?

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2 participants