Lithium22
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The proportions are adjusted for the X chromosome as I have almost only males I don't expect a diploidy for this chromosome. If you have for example a population composed of 50% males and 50% femal...
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Hello Dr N Ch,Below is my contig_ploidy_prior.tsv file.The proportions have been adjusted to my patient cohort which is almost entirely male. CONTIG_NAME PLOIDY_PRIOR_0 PLOIDY_PRIOR_1 PLOIDY_P...
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Hello SkyWarrior, Thank you very much for your response and your time. My patient cohort comes from different sequencing technologies.Therefore, I created a intervals list based on the GRCh38 exoni...
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Thank you for your answer. Ok the first point is a general question on the GATK usage, however the second point concerns an abnormal return from the tool. Is it necessary to create a new thread wi...