Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study
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- 作者：Paola Carreraa ; b ; carrera.paola@hsr.it" class="auth_mail" title="E-mail the corresponding author ; Chiara Di Restaa ; Chiara Volonteric ; Emanuela Castiglionia ; Silvia Bonfigliod ; Dejan Lazarevicd ; Davide Cittarod ; Elia Stupkad ; Maurizio Ferraria ; b ; c ; Marco Somaschinia ; for the BPD ; Genetics Study GroupRosario Magaldi1 ; Matteo Rinaldi1 ; Gianfranco Maffei1 ; Mauro Stronati2 ; Chryssoula Tzialla2 ; Alessandro Borghesi2 ; Paolo Tagliabue3 ; Tiziana Fedeli3 ; Marco Citterio3 ; Fabio Mosca4 ; Mariarosa Colnaghi4 ; Anna Lavizzari4 ; Massimo Agosti5 ; Gaia Francescato5 ; Giulia Pomero6 ; Cristina Dalmazzo6 ; Antonio Boldrini7 ; Rosa Scaramuzzo7 ; Enrico Bertino8 ; Silvia Borgione8 ; Claudio Martano8 ; Virgilio Carnielli9 ; Stefano Nobile9 ; Antonietta Auriemma10 ; Cristina Bellan10 ; Giuseppe Carrera11 ; Chiara Zambetti11 ; Riccardo Pucello12 ; Sara Palatta12
- 关键词：Bronchopulmonary dysplasia ; Exome sequencing ; Genetics
- 刊名：Clinica Chimica Acta
- 出版年：2015
- 出版时间：7 December 2015
- 年：2015
- 卷：451
- 期：part_PA
- 页码：39-45
- 全文大小：318 K
文摘
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We applied exome sequencing and pathway analysis to the study of BPD, a complex disorder.
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This is a pilot study on 26 patients with severe BPD selected as extreme phenotypes.
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We selected rare or novel variants predicted to have a moderate–high effect.
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We identified variants in genes previously associated to BPD.
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We identified 5 top candidates by pathway analysis.
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