Interpretation of genetic variants
نویسندگان
چکیده
منابع مشابه
Searching PubMed for articles relevant to clinical interpretation of rare human genetic variants
To the editor: While the speed and cost of genome sequencing has improved dramatically, the task of interpreting gene sequences for clinical purposes remains challenging [1-4]. Thousands of investigations into the pathogenicity of genetic variants have been completed and reported in peerreviewed studies – however – which studies should be reviewed for each patient genome? The task of matching s...
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The reverse transcriptase (RT) enzyme is the prime target of nucleoside/ nucleotide (NRTI) and non-nucleoside (NNRTI) reverse transcriptase inhibitors. Here we investigate the structural basis of effects of drug-resistance mutations in clade C RT using three-dimensional structural modeling. Apropos the expectation was for unique mechanisms in clade C based on interactions with amino acids of p6...
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15 صفحه اولfunctional genetic variants of foxp3 and risk of multiple sclerosis
background multiple sclerosis (ms) is an autoimmune disease that affects the central nervous system (cns). ms is one of the most common cause of neurological impairment at a young age with a complex etiology. the forkhead/winged helix (foxp3) gene encodes a transcription factor that plays an important role in the working and progress of regulatory t cells. loss of the foxp3 function impairs the...
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ژورنال
عنوان ژورنال: Thorax
سال: 2013
ISSN: 0040-6376,1468-3296
DOI: 10.1136/thoraxjnl-2013-204903