User: spanakorice

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spanakorice10
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Posts by spanakorice

<prev • 6 results • page 1 of 1 • next >
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Comment: C: How do I make a schema with all described variants within a gene?
... Thank you. MutationMapper seems to do what I was searching for! I still have to try with my data. ...
written 5 days ago by spanakorice10
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How do I make a schema with all described variants within a gene?
... Hello. I would like to make a graphical representation of a transcript with all known variants. Something similar to image below. Would anyone know how this can be done (apart from the "add custom tracks" of UCSC genome browser)? Thank you in advance. ![enter image description here][1] [1]: h ...
gene variants schema written 5 days ago by spanakorice10 • updated 5 days ago by WouterDeCoster24k
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Comment: C: NGS statistics - Mean coverage and % of bases >20x (or probability to miss one o
... Thank you Kevin. I am afraid it is not that simple. There was a recent talk at the ESHG meeting from A. Rauch citing the NGS guidelines I mentioned above. The following stats are from the guidelines. gif image host So the discussion was that - in the clinical setting - it is better to "throw" you ...
written 8 weeks ago by spanakorice10
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Comment: A: NGS statistics - Mean coverage and % of bases >20x (or probability to miss one o
... It's just that different options eg. 65x and 130x are often offered from the same lab for different prices (the latter being 50% more expensive). For the 130x mean coverage they give ~96-97% above 20x. So I was wondering what the % of 20x coverage would be for the 65x exome. And if this can be also ...
written 8 weeks ago by spanakorice10
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Comment: A: NGS statistics - Mean coverage and % of bases >20x (or probability to miss one o
... Would anybody have an idea? ...
written 8 weeks ago by spanakorice10
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NGS statistics - Mean coverage and % of bases >20x (or probability to miss one or two variants)
... Dear colleagues, I would be interested to know if there is a publication or other reference for NGS statistics. The NGS guidelines published in 2016 (PMID: 26508566) provide an estimate of probability to miss a variant in different situations, namely considering the % of bases covered >20x. Eg. ...
next-gen sequencing written 8 weeks ago by spanakorice10

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