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Dear Wei,
I'm using latest version of SAIGE (0.36.3.1) for gen-based analysis:
> SPAGMMATtest(vcfFile = "myvcf.vcf.gz", vcfFileIndex = "myvcf.vcf.gz.tbi", vcfField = "GT",chrom = "0", minMAF = 0…
Ojami updated
4 years ago
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I want ot change the manually curated inheritande model in a gene but it is not possible. I gent the wrong type of inheritance model type , see atttached picture
![bild](https://user-images.githubu…
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Hello,
Does RASQUAL expect that the haplotype with higher between-sample fragment count also be the haplotype with more reads in the allelic imbalance test?
Thanks!
Kevin
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Dear Stephane,
I used the phASER software using two input BAM files, one containing RNA-seq data, the other containing Whole Genome Sequencing DNA data. I used the --haplo_count_bam_exclude option …
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I noticed some flags that are not described on the website when running `--help`. The names and descriptions of some of the flags imply quite interesting features that I'd like to explore if possible.…
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Hi Natsuhiko,
We have a very strong chromatin QTL that looks great between variant 1:109817590 and peak11858 in our data. After looking in the browser, we found three nearby peaks that are strongly…
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https://www.ncbi.nlm.nih.gov/pubmed/29107330
https://bitbucket.org/mcgranahanlab/lohhla
HLA LOH
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Hi, Can facets be used for tumor-only samples or tumor with unmatched normal samples? Thanks
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Hello,
MANTA2 seems like a very convenient tool! It performed very quickly for a quick test analysis that I ran!
I am interested in using MANTA2 for analyses that are mostly brain development re…
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We have generated CNV output from [ControlFreeC](http://boevalab.com/FREEC/) and [CNVKit](https://cnvkit.readthedocs.io/en/stable/), but are seeking individuals to determine consensus focal calls and/…