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10.1016/j.ajhg.2017.07.014 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2017.07.014 C5590843!5590843 !28886340     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28886340 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28886340 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Hum+Genet 2017 ; 101 (3 ): 315-325 Nephropedia Template TP {{tp|p=28886340 |t=2017. Variant Interpretation: Functional Assays to the Rescue |pdf=|usr=}}{{28886340 }} gab.com Text Variant Interpretation: Functional Assays to the Rescue JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28886340 #FOAvip Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of genetics requires that we accurately infer pathogenicity even for rare or private variation. Many computational approaches to predicting variant effects have been developed, but they can identify only a small fraction of pathogenic variants with the high confidence that is required in the clinic. Experimentally measuring a variant's functional consequences can provide clearer guidance, but individual assays performed only after the discovery of the variant are both time and resource intensive. Here, we discuss how multiplex assays of variant effect (MAVEs) can be used to measure the functional consequences of all possible variants in disease-relevant loci for a variety of molecular and cellular phenotypes. The resulting large-scale functional data can be combined with machine learning and clinical knowledge for the development of "lookup tables" of accurate pathogenicity predictions. A coordinated effort to produce, analyze, and disseminate large-scale functional data generated by multiplex assays could be essential to addressing the variant-interpretation crisis. Twit Text FOAVip Variant Interpretation: Functional Assays to the Rescue ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=28886340 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28886340 #FOAvip English Wikipedia <ref>{{Cite pmid|28886340 }}</ref> Variant Interpretation: Functional Assays to the Rescue #MMPMID28886340 Starita LM ; Ahituv N ; Dunham MJ ; Kitzman JO ; Roth FP ; Seelig G ; Shendure J ; Fowler DM Am J Hum Genet 2017[Sep]; 101 (3 ): 315-325 PMID28886340 show ga Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of genetics requires that we accurately infer pathogenicity even for rare or private variation. Many computational approaches to predicting variant effects have been developed, but they can identify only a small fraction of pathogenic variants with the high confidence that is required in the clinic. Experimentally measuring a variant's functional consequences can provide clearer guidance, but individual assays performed only after the discovery of the variant are both time and resource intensive. Here, we discuss how multiplex assays of variant effect (MAVEs) can be used to measure the functional consequences of all possible variants in disease-relevant loci for a variety of molecular and cellular phenotypes. The resulting large-scale functional data can be combined with machine learning and clinical knowledge for the development of "lookup tables" of accurate pathogenicity predictions. A coordinated effort to produce, analyze, and disseminate large-scale functional data generated by multiplex assays could be essential to addressing the variant-interpretation crisis. |*Genetic Variation [MESH] |Computational Biology/*methods [MESH] |Disease/*genetics [MESH] |Genome, Human [MESH]Variant Interpretation: Functional Assays to the Rescue (epmc).pdf DeepDyve Pubget Overpricing