Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Doron M BeharOri InbarMichal ShteinbergMichal GurHuda MussaffiDavid ShoseyovMoshe AshkenaziSoliman AlkrinawiConcetta BormansFahed HakimMeir Mei-ZahavMalena Cohen-CymberknohAdi DaganDario PraisIfat SaroukPatrick StaflerBat El Bar AlumaGidon AklerElie PicardMicha AviramOri EfratiGalit LivnatJoseph RivlinLea BenturHannah BlauEitan KeremAmihood SingerPublished in: Molecular genetics & genomic medicine (2017)
Our data reveal an overwhelming hidden abundance of CFTR gene mutations suggesting that expanded preconception carrier screening might achieve higher preconception detection rates.
Keyphrases
- cystic fibrosis
- end stage renal disease
- ejection fraction
- chronic kidney disease
- newly diagnosed
- pseudomonas aeruginosa
- prognostic factors
- lung function
- electronic health record
- gene expression
- chronic obstructive pulmonary disease
- big data
- machine learning
- deep learning
- real time pcr
- artificial intelligence
- microbial community
- label free
- patient reported