User: imbiling

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imbiling0
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Posts by imbiling

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Comment: C: Missing SNPs in sequencing.com from BAM file
... I also stumbled upon this post: https://apeltzer.github.io/post/02-dante-wgs/ It describes a ready-to-use pipeline which probably automates much of what I did: https://github.com/SciLifeLab/Sarek As far as I understand you give it your FASTQ files and it does all the magic with the tools I've alre ...
written 13 days ago by imbiling0
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Comment: A: Missing SNPs in sequencing.com from BAM file
... German.M.Demidov, thank you! I'm waiting for the third post in your great Medium series: https://medium.com/@german.m.demidov/how-to-analyse-your-own-dna-a-personal-experience-c4057d41753f I will appreciate if you can answer some of my questions here. Please also correct any mistakes I may have mad ...
written 13 days ago by imbiling0
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Comment: C: Missing SNPs in sequencing.com from BAM file
... German.M.Demidov, thank you so much! I am waiting for the third post in the series! ...
written 13 days ago by imbiling0
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Answer: A: Missing SNPs in sequencing.com from BAM file
... Thank you. Let me elaborate. Importing the BAM file in Sequencing/Promethease (Promethease has since deprecated BAM file support) didn't yield any additional SNPs. For example "rs1006737" was missing. I am not sure a missing SNP means that my genotype matches the reference genome. This doesn't make ...
written 5 weeks ago by imbiling0
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Missing SNPs in sequencing.com from BAM file
... First post here, complete newbie. I'm not sure if this is the relevant place to ask this, so please excuse me if I'm wrong. I have done WGS at Dante Labs and imported the BAM (100GB) file in sequencing.com. The import in Promethease is still pending. I would like to be able to explore "my own" conf ...
missing bam snp sequencing written 4 months ago by imbiling0

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