Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders

Affiliations

¹ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
² Department of Human Genetics, Emory University School of Medicine, Atlanta, GA. mhegde@emory.edu.

Comment

Samya Chakravorty et al. Clin Chem. 2018 Jun.

. 2018 Jun;64(6):882-884.

doi: 10.1373/clinchem.2017.276980. Epub 2017 Nov 2.

¹ Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.
² Department of Human Genetics, Emory University School of Medicine, Atlanta, GA. mhegde@emory.edu.

No abstract available

Comment on

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.