Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge

The CAGI-5 intellectual disability challenge asked to use computational methods to predict patient clinical phenotypes and the causal variant(s) based on an analysis of their gene panel sequence data. Sequence data for 74 genes associated with intellectual disability (ID) and/or Autism spectrum diso...

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Bibliografiset tiedot
Julkaisussa:Hum Mutat
Päätekijät: Carraro, Marco, Monzon, Alexander Miguel, Chiricosta, Luigi, Reggiani, Francesco, Aspromonte, Maria Cristina, Bellini, Mariagrazia, Pagel, Kymberleigh, Jiang, Yuxiang, Radivojac, Predrag, Kundu, Kunal, Pal, Lipika R., Yin, Yizhou, Limongelli, Ivan, Andreoletti, Gaia, Moult, John, Wilson, Stephen J., Katsonis, Panagiotis, Lichtarge, Olivier, Chen, Jingqi, Wang, Yaqiong, Hu, Zhiqiang, Brenner, Steven E., Ferrari, Carlo, Murgia, Alessandra, Tosatto, Silvio C.E., Leonardi, Emanuela
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2019
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7341177/
https://ncbi.nlm.nih.gov/pubmed/31144778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23823
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