Ontology highlight
ABSTRACT:
SUBMITTER: Wu C
PROVIDER: S-EPMC6460638 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Wu Chao C Devkota Batsal B Evans Perry P Zhao Xiaonan X Baker Samuel W SW Niazi Rojeen R Cao Kajia K Gonzalez Michael A MA Jayaraman Pushkala P Conlin Laura K LK Krock Bryan L BL Deardorff Matthew A MA Spinner Nancy B NB Krantz Ian D ID Santani Avni B AB Tayoun Ahmad N Abou ANA Sarmady Mahdi M
European journal of human genetics : EJHG 20190109 4
Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies. Despite rapid advancements, the major challenge still resides in identifying the casual variants among the thousands of variants detected during CES testing, and thus establishing a molecular diagnosis. To improve the clinical exome diagnostic efficiency, we developed Phenoxome, a robust phenotype-driven model that adopts a network-based approach to fa ...[more]