Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891541687> ?p ?o ?g. }
- W2891541687 abstract "Abstract RNA sequencing (RNA-seq) is a complementary approach for Mendelian disease diagnosis for patients in whom exome-sequencing is not informative. For both rare neuromuscular and mitochondrial disorders, its application has improved diagnostic rates. However, the generalizability of this approach to diverse Mendelian diseases has yet to be evaluated. We sequenced whole blood RNA from 56 cases with undiagnosed rare diseases spanning 11 diverse disease categories to evaluate the general application of RNA-seq to Mendelian disease diagnosis. We developed a robust approach to compare rare disease cases to existing large sets of RNA-seq controls (N=1,594 external and N=31 family-based controls) and demonstrated the substantial impacts of gene and variant filtering strategies on disease gene identification when combined with RNA-seq. Across our cohort, we observed that RNA-seq yields a 8.5% diagnostic rate. These diagnoses included diseases where blood would not intuitively reflect evidence of disease. We identified RARS2 as an under-expression outlier containing compound heterozygous pathogenic variants for an individual exhibiting profound global developmental delay, seizures, microcephaly, hypotonia, and progressive scoliosis. We also identified a new splicing junction in KCTD7 for an individual with global developmental delay, loss of milestones, tremors and seizures. Our study provides a broad evaluation of blood RNA-seq for the diagnosis of rare disease." @default.
- W2891541687 created "2018-09-27" @default.
- W2891541687 creator A5003774159 @default.
- W2891541687 creator A5008875424 @default.
- W2891541687 creator A5013632481 @default.
- W2891541687 creator A5013654614 @default.
- W2891541687 creator A5015851170 @default.
- W2891541687 creator A5023119724 @default.
- W2891541687 creator A5023223161 @default.
- W2891541687 creator A5024536873 @default.
- W2891541687 creator A5025409424 @default.
- W2891541687 creator A5025799447 @default.
- W2891541687 creator A5027249096 @default.
- W2891541687 creator A5030148402 @default.
- W2891541687 creator A5031106200 @default.
- W2891541687 creator A5036743041 @default.
- W2891541687 creator A5037158025 @default.
- W2891541687 creator A5038096666 @default.
- W2891541687 creator A5043239480 @default.
- W2891541687 creator A5043895664 @default.
- W2891541687 creator A5048257222 @default.
- W2891541687 creator A5048869064 @default.
- W2891541687 creator A5050654302 @default.
- W2891541687 creator A5057155521 @default.
- W2891541687 creator A5063533488 @default.
- W2891541687 creator A5063708781 @default.
- W2891541687 creator A5066999437 @default.
- W2891541687 creator A5070884536 @default.
- W2891541687 creator A5071049391 @default.
- W2891541687 creator A5078711287 @default.
- W2891541687 creator A5080231471 @default.
- W2891541687 creator A5084898999 @default.
- W2891541687 creator A5085525898 @default.
- W2891541687 creator A5089003375 @default.
- W2891541687 creator A5090154459 @default.
- W2891541687 date "2018-09-04" @default.
- W2891541687 modified "2023-09-27" @default.
- W2891541687 title "Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts" @default.
- W2891541687 cites W1533942137 @default.
- W2891541687 cites W1820845817 @default.
- W2891541687 cites W1907868928 @default.
- W2891541687 cites W1986911601 @default.
- W2891541687 cites W1993706836 @default.
- W2891541687 cites W1999574084 @default.
- W2891541687 cites W2006486589 @default.
- W2891541687 cites W2011582941 @default.
- W2891541687 cites W2016211613 @default.
- W2891541687 cites W2018363492 @default.
- W2891541687 cites W2036963968 @default.
- W2891541687 cites W2038473742 @default.
- W2891541687 cites W2056694575 @default.
- W2891541687 cites W2056705950 @default.
- W2891541687 cites W2064544100 @default.
- W2891541687 cites W2082286876 @default.
- W2891541687 cites W2082518797 @default.
- W2891541687 cites W2088338354 @default.
- W2891541687 cites W2102619694 @default.
- W2891541687 cites W2103441770 @default.
- W2891541687 cites W2119180969 @default.
- W2891541687 cites W2119412782 @default.
- W2891541687 cites W2119818111 @default.
- W2891541687 cites W2124908019 @default.
- W2891541687 cites W2141976211 @default.
- W2891541687 cites W2144961623 @default.
- W2891541687 cites W2145191876 @default.
- W2891541687 cites W2160995259 @default.
- W2891541687 cites W2162151166 @default.
- W2891541687 cites W2167852161 @default.
- W2891541687 cites W2168133698 @default.
- W2891541687 cites W2168339088 @default.
- W2891541687 cites W2250097150 @default.
- W2891541687 cites W2256016639 @default.
- W2891541687 cites W2269787281 @default.
- W2891541687 cites W2521004108 @default.
- W2891541687 cites W2557385283 @default.
- W2891541687 cites W2594494412 @default.
- W2891541687 cites W2607005032 @default.
- W2891541687 cites W2611574484 @default.
- W2891541687 cites W2622446067 @default.
- W2891541687 cites W2734816454 @default.
- W2891541687 cites W2761275051 @default.
- W2891541687 cites W2791836232 @default.
- W2891541687 cites W2950545834 @default.
- W2891541687 cites W2951507392 @default.
- W2891541687 doi "https://doi.org/10.1101/408492" @default.
- W2891541687 hasPublicationYear "2018" @default.
- W2891541687 type Work @default.
- W2891541687 sameAs 2891541687 @default.
- W2891541687 citedByCount "7" @default.
- W2891541687 countsByYear W28915416872017 @default.
- W2891541687 countsByYear W28915416872019 @default.
- W2891541687 countsByYear W28915416872020 @default.
- W2891541687 countsByYear W28915416872021 @default.
- W2891541687 crossrefType "posted-content" @default.
- W2891541687 hasAuthorship W2891541687A5003774159 @default.
- W2891541687 hasAuthorship W2891541687A5008875424 @default.
- W2891541687 hasAuthorship W2891541687A5013632481 @default.
- W2891541687 hasAuthorship W2891541687A5013654614 @default.
- W2891541687 hasAuthorship W2891541687A5015851170 @default.
- W2891541687 hasAuthorship W2891541687A5023119724 @default.