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We noticed that some references didn't format well and that it always happened when there was a consortium in the author list. Also, the consortium name was missing.
There is always the solution o…
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Der Datensatz https://pub.h-brs.de/5398 enthält im Titel den Begriff "E-cadherin". Wenn man nur nach dem Begriff sucht, wird der Datensatz erwartungsgemäß gefunden, egal ob man ihn als Phrase mit Anfü…
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Joint call variants returns a variant that is outside of MTHFR gene range (platinum whole genome) SNP 11844737 (see screen print)
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The HGVS nomenclature now recommends including both a sequence and transcript identifier for some variants, with the transcript identifier in parentheses e.g.: https://hgvs-nomenclature.org/stable/rec…
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Zoom into a region of Clinvar Variants. Now the variant symbols overlap.
http://gene.iobio.io/?rel0=proband&rel1=mother&rel2=father&gene=TP53&name0=proband&name1=mother&name2=father&sample1=10718X3&…
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Hello,
So I have the script for getting both synonymous and misense variants fom VCF file.
Now I wonder, how to input these results from many genes into ProxECAT vector? How should input file look l…
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We have a number of ins or dup variants at the intron/exon or exon/intron boundary that return no protein change that we believe should be treated as coding because the splice site & region remain com…
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From Abby:
Currently, if there are variants listed in a .meta file that have the same position, and both variants exist in the dataset, only one will be returned and included in the score, even when …
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Exomiser