Moderator: Biomed
Biomed ♦ 4.4k
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Research Fellow, National Human Genome Research Institute
Posts by Biomed
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... The question is about known-to-be disease-causing genes and variants like a nonsense variant in an ACMG 59 gene. I am not interested in genes and variants of unknown significance. I hope this clarifies the question. Thanks for the comment. ...
written 11 weeks ago by
Biomed ♦ 4.4k
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... I am interested in finding a comprehensive (SNV +CNV) and reliable list of all known disease-causing genes and preferably also variants in those genes. Clinvar comes to mind as an obvious option but is it really the best source out there or should one combine the information found in clinvar with ot ...
written 11 weeks ago by
Biomed ♦ 4.4k
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... A clinical lab I collaborate with, offered to give my lab some recently (less than 3-6 months) expired Illumina GSA chips for free. Has anyone used those chips for research (or other purposes) beyond their expiration dates, if so what has been your experience? ...
written 3 months ago by
Biomed ♦ 4.4k
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... Thanks for the thoughtful response. The chip in question is designed to be used in a primary care setting. Meaning that it is intended to serve as a diagnostic tool for known disease associated snps (may not be the ultimate tool but a diagnostic tool that can point the lab in the right direction whi ...
written 2.4 years ago by
Biomed ♦ 4.4k
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... Good catch on HGMD version. I edited the question accordingly. ...
written 2.4 years ago by
Biomed ♦ 4.4k
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... I would like to design a SNP chip to be used in primary care/clinical setting. I have the ability to determine what markers to have on this custom designed chip. This is not going to be focused on a single disease group/phenotype and is meant to be used as a screening test, risk prediction tool and ...
written 2.4 years ago by
Biomed ♦ 4.4k
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... Could you expand the "produce good results (normally)"? For us the quality of the extraction is naturally of highest priority.
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written 3.7 years ago by
Biomed ♦ 4.4k
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... A colleague told me that phenol chloroform extraction is not the best and most contemporary way to extract DNA for exome sequencing. One of our sequencing center partners require us to extract DNA using this method. Is phenol chloroform extraction really less desirable and is there a better standard ...
written 3.7 years ago by
Biomed ♦ 4.4k
• updated
3.7 years ago by
Devon Ryan ♦ 85k
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Comment:
C: Conservation At Amino Acid Level
... You are right I am interested in amino acid-protein level conservation as well as base level conservation. Thanks for the answer.
...
written 6.3 years ago by
Biomed ♦ 4.4k
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Comment:
C: Conservation At Amino Acid Level
... Hi Sean, yes the idea is to help prioritize variants but the problem arises when the nucleotide is not so well conserved yet there is stronger conservation at the amino acid levels. I suspect the methods that are based on nucleotide conservation will give a slightly different result in those cases.
...
written 6.3 years ago by
Biomed ♦ 4.4k
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