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Interpretable prioritization of splice variants in diagnostic next-generation sequencing.

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第一作者： Daniel,Danis

第一单位： The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.

作者： Daniel,Danis ^[1] ; Julius O B,Jacobsen ^[2] ; Leigh C,Carmody ^[1] ; Michael A,Gargano ^[1] ; Julie A,McMurry ^[3] ; Ayushi,Hegde ^[1] ; Melissa A,Haendel ^[3] ; Giorgio,Valentini ^[4] ; Damian,Smedley ^[2] ; Peter N,Robinson ^[5]

作者单位： The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA. ^[1] William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK. ^[2] University of Colorado Anschutz Medical Campus, Aurora, CO, USA. ^[3] Anacleto Lab - Dipartimento di Informatica and DSRC, Università degli Studi di Milano, Via Celoria 18, 20133 Milan, Italy; CINI National Laboratory in Artificial Intelligence and Intelligent Systems-AIIS, Rome, Italy. ^[4] The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA. Electronic address: peter.robinson@jax.org. ^[5]

关键词 Mendelian genetics bioinformatics cryptic splicing exome sequencing genome sequencing machine learning random forest sequence logo splice mutation splice variant splicing