User: User 6659
User 6659 • 970
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- 8 years, 5 months ago
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- 8 years, 6 months ago
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- u1242
Posts by User 6659
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... i agree with chris - we need a specific example of what you want to achieve ...
written 8.4 years ago by
User 6659 • 970
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... thanks for answering. if 90% per sample per region are covered at least once and 10% of a sample are not covered then the length of the region in question surely has a huge impact on that? How is region length taken into consideration? Is there a certain coverage that ensures 100% of the genome is s ...
written 8.4 years ago by
User 6659 • 970
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... thanks. What do you think a coverage of 90% per sample per region means as per the question i linked to? Does that mean that 90% of any particular sequence region is sequenced to any depth? That would suggest 10% of a region isn't sequenced at all which doesnt sound likely ...
written 8.4 years ago by
User 6659 • 970
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... thanks - what do you think they mean in the question i referred to by coverage = min 90% per sample/per region ...
written 8.4 years ago by
User 6659 • 970
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... Hello
Please could you clarify for me the different metrics associated with sequencing data. What is the difference between depth and coverage.
I have seen a question with this title closed already because it is was classed as an exact duplicate to this question. I have read that question and thou ...
written 8.4 years ago by
User 6659 • 970
• updated
8.4 years ago by
Michael Dondrup ♦ 46k
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Comment:
C: Sift Or Polyphen
... Also what are the SNP effects in thalassemia and falciform anaemia you refer to? I'm not aware of the impact of SNPs in these diseases. Are they non synonymous SNPs? Actually the thalassemia one is ringing a dim and distant bell now you mention it :) ...
written 8.4 years ago by
User 6659 • 970
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C: Sift Or Polyphen
... sorry is that question at me or snpminer? Please can you rephrase it as if it is directed at me, I don't understand the question. Incidentally my comment was directed at the OP not at you. I thought he might be interested in the BMC paper. I'm familiar with you as a member of this forum and I didn't ...
written 8.4 years ago by
User 6659 • 970
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C: Sift Or Polyphen
... can i ask why it has to be SIFT or polyphen as it seems very restrictive and a bit unrealistic. we could perhaps help more if we knew the constraints you were operating under. However you might be interested to know that recent studies have shown that there is no link between the effect of a SNP on ...
written 8.4 years ago by
User 6659 • 970
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Answer:
A: Ucsc Browser And Novel Snps
... I emailed the author of the tool and he confirmed that the tool uses genomic sequences to calculate the effects of novel variants ...
written 8.4 years ago by
User 6659 • 970
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... To quote from a paper 'exome sequencing identifies the cause of a mendelian disorder'
"the clear majority of alleleic variants known to underlie Mendelian disorders disrupt protein-coding sequences. Splice acceptor and donor sites represent an additional class of sequences that are enriched for hi ...
written 8.4 years ago by
User 6659 • 970
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