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10.1101/mcs.a001099 http://scihub22266oqcxt.onion/10.1101/mcs.a001099 C5411689!5411689 !28487880     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=28487880 &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 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 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\28487880 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Cold+Spring+Harb+Mol+Case+Stud 2017 ; 3 (3 ): a001099 Nephropedia Template TP {{tp|p=28487880 |t=2017. When "N of 2" is not enough: integrating statistical and functional data in gene discovery |pdf=|usr=}}{{28487880 }} gab.com Text When "N of 2" is not enough: integrating statistical and functional data in gene discovery JO: Cold Spring Harb Mol Case Stud http://www.kidney.de/pget.php?&tw=1&pmid=28487880 #FOAvip The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases ["N of 2"] in which variants are present in the same gene). These second case hits provide statistical evidence of an association, which may then be combined with functional validation or familial segregation studies to bolster the evidence that a gene is truly causal. Here, we discuss how to integrate different forms of functional evidence with human genetics case and segregation data to improve the significance of new disease-gene associations. Twit Text FOAVip When "N of 2" is not enough: integrating statistical and functional data in gene discovery ????Cold Spring Harb Mol Case Stud http://www.kidney.de/pget.php?&tw=1&pmid=28487880 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28487880 #FOAvip English Wikipedia <ref>{{Cite pmid|28487880 }}</ref> When "N of 2" is not enough: integrating statistical and functional data in gene discovery #MMPMID28487880 Cassa CA ; Akle S ; Jordan DM ; Rosenfeld JA Cold Spring Harb Mol Case Stud 2017[May]; 3 (3 ): a001099 PMID28487880 show ga The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases ["N of 2"] in which variants are present in the same gene). These second case hits provide statistical evidence of an association, which may then be combined with functional validation or familial segregation studies to bolster the evidence that a gene is truly causal. Here, we discuss how to integrate different forms of functional evidence with human genetics case and segregation data to improve the significance of new disease-gene associations. |Computational Biology [MESH] |Exome [MESH] |Genetic Association Studies/*methods [MESH] |Genetic Predisposition to Disease [MESH] |Genome-Wide Association Study/methods [MESH] |Genomics/*methods/statistics & numerical data [MESH] |High-Throughput Nucleotide Sequencing [MESH] |Humans [MESH]When "N of 2" is not enough: integrating statistical and functional da(epmc).pdf DeepDyve Pubget Overpricing