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10.1038/ncomms15824 http://scihub22266oqcxt.onion/10.1038/ncomms15824 C5499207!5499207 !28604674     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 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\28604674 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Nat+Commun 2017 ; 8 (ä): 15824 Nephropedia Template TP {{tp|p=28604674 |t=2017. Genetic diagnosis of Mendelian disorders via RNA sequencing |pdf=|usr=}}{{28604674 }} gab.com Text Genetic diagnosis of Mendelian disorders via RNA sequencing JO: Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=28604674 #FOAvip Across a variety of Mendelian disorders, ?50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation make prioritization challenging. Here, we demonstrate the power of transcriptome sequencing to molecularly diagnose 10% (5 of 48) of mitochondriopathy patients and identify candidate genes for the remainder. We find a median of one aberrantly expressed gene, five aberrant splicing events and six mono-allelically expressed rare variants in patient-derived fibroblasts and establish disease-causing roles for each kind. Private exons often arise from cryptic splice sites providing an important clue for variant prioritization. One such event is found in the complex I assembly factor TIMMDC1 establishing a novel disease-associated gene. In conclusion, our study expands the diagnostic tools for detecting non-exonic variants and provides examples of intronic loss-of-function variants with pathological relevance. Twit Text FOAVip Genetic diagnosis of Mendelian disorders via RNA sequencing ????Nat Commun http://www.kidney.de/pget.php?&tw=1&pmid=28604674 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28604674 #FOAvip English Wikipedia <ref>{{Cite pmid|28604674 }}</ref> Genetic diagnosis of Mendelian disorders via RNA sequencing #MMPMID28604674 Kremer LS ; Bader DM ; Mertes C ; Kopajtich R ; Pichler G ; Iuso A ; Haack TB ; Graf E ; Schwarzmayr T ; Terrile C ; Ko?a?íková E ; Repp B ; Kastenmüller G ; Adamski J ; Lichtner P ; Leonhardt C ; Funalot B ; Donati A ; Tiranti V ; Lombes A ; Jardel C ; Gläser D ; Taylor RW ; Ghezzi D ; Mayr JA ; Rötig A ; Freisinger P ; Distelmaier F ; Strom TM ; Meitinger T ; Gagneur J ; Prokisch H Nat Commun 2017[Jun]; 8 (ä): 15824 PMID28604674 show ga Across a variety of Mendelian disorders, ?50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation make prioritization challenging. Here, we demonstrate the power of transcriptome sequencing to molecularly diagnose 10% (5 of 48) of mitochondriopathy patients and identify candidate genes for the remainder. We find a median of one aberrantly expressed gene, five aberrant splicing events and six mono-allelically expressed rare variants in patient-derived fibroblasts and establish disease-causing roles for each kind. Private exons often arise from cryptic splice sites providing an important clue for variant prioritization. One such event is found in the complex I assembly factor TIMMDC1 establishing a novel disease-associated gene. In conclusion, our study expands the diagnostic tools for detecting non-exonic variants and provides examples of intronic loss-of-function variants with pathological relevance. |*Gene Expression Profiling [MESH] |*Sequence Analysis, RNA [MESH] |Diagnostic Techniques and Procedures [MESH] |Humans [MESH] |Mitochondrial Diseases/*genetics [MESH]Genetic diagnosis of Mendelian disorders via RNA sequencing (epmc).pdf DeepDyve Pubget Overpricing