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Hi Everyone, Baraa and I interviewed Sam Chorlton last week and as Baraa posted, we thought it was a great project, needing more refinement at the team lead level. Sam got back to us filling all these…
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Hi,
Thanks for providing this tool and source code. The output looks great!
Is the license for this software open? If so, any guidance on the modifying the software to generate a summary of gener…
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We are only interested in pathogenic mutations. Exclude benign mutations.
Currently all mutations are translated. Certainly benign mutations could be excluded prior to deeper hgvs analysis.
**Im…
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Enligt tidigare diskussion med Henrik och Anders önskar vi att alla varianter i mtDNA (m.1 till m.16569) ska presenteras i Scout. Anders har i testfall tagit fram alla varianter, d.v.s. även de som sa…
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The possible values:
"Benign / Little Clinical Significance"
"Likely benign"
**"Not Yet Reviewed"**
"Pathogenic"
"Uncertain"
We currently filter out ["Not Yet Reviewed"](http://brcaexchange.…
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de novo searching seems to be broken in the CMG_Estonia_WGS project - I think it's an issue with the allele balance filtering.
https://seqr.broadinstitute.org/project/Estonian_WGS/family/HK102/mend…
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Hi,
I was curious in protein sequence from patient data. According to this [question](https://bioinformatics.stackexchange.com/questions/4301/protein-sequence-from-patient-data/4312?noredirect=1#co…
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We would also want to change the field to be a typeahead.
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The cli options have become too numerous and are limited to the original exomiser algorithm only. They also use a parallel code path to the analysis API which means implementing new features requiring…