Lithium22
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Latest activity by Lithium22-
Lithium22 commented,
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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Lithium22 commented,
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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Lithium22 commented,
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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Lithium22 commented,
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...
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Lithium22 created a post,
GATK4.1.7.0 Germline CNV DetermineGermlineContigPloidy predicts a trisomy
AnsweredHello all, I'm currently working on the germinal cnv calls for a patients exome set who will be enriched over time. First: Is it possible to integrate into the model(obtained initially with the coh...