Utility of RNA Sequencing Analysis in the Context of Genetic Testing

[1] Abecasis GR(2012)An integrated map of genetic variation from 1,092 human genomes Nature. 491 56-65

[2] Auton A(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-424

[3] Brooks LD(2017)Deep intronic mutations and human disease Hum Genet 136 1093-1011

[4] DePriston MA(2018)“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing J Inherit Metab Dis 41 525-532

[5] Durbin RM(2016)Translating RNA sequencing into clinical diagnostics: opportunities and challenges Nat Rev Genet. 17 257-271

[6] Richards S(2015)Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints Am J Hum Genet 96 208-220

[7] Aziz N(2014)Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing Clin Chem 60 341-352

[8] Bale S(2009)RNA-Seq: a revolutionary tool for transcriptomics Nat Rev Genet 10 57-63

[9] Bick D(2015)Alternative splicing signatures in RNA-seq data: percent spliced in (PS1) Curr Protoc Hum Genet 87 11.16.1-11.1614

[10] Das S(2019)Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease [published correction appears in Am J Hum Genet. 2019;104(5):1007] Am J Hum Genet 104 466-483

[1] Abecasis GR(2012)An integrated map of genetic variation from 1,092 human genomes Nature. 491 56-65

[2] Auton A(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-424

[3] Brooks LD(2017)Deep intronic mutations and human disease Hum Genet 136 1093-1011

[4] DePriston MA(2018)“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing J Inherit Metab Dis 41 525-532

[5] Durbin RM(2016)Translating RNA sequencing into clinical diagnostics: opportunities and challenges Nat Rev Genet. 17 257-271

[6] Richards S(2015)Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints Am J Hum Genet 96 208-220

[7] Aziz N(2014)Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing Clin Chem 60 341-352

[8] Bale S(2009)RNA-Seq: a revolutionary tool for transcriptomics Nat Rev Genet 10 57-63

[9] Bick D(2015)Alternative splicing signatures in RNA-seq data: percent spliced in (PS1) Curr Protoc Hum Genet 87 11.16.1-11.1614

[10] Das S(2019)Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease [published correction appears in Am J Hum Genet. 2019;104(5):1007] Am J Hum Genet 104 466-483