TY - JOUR AU - Fang, Han AU - Wu, Yiyang AU - Yang, Hui AU - Yoon, Margaret AU - Jiménez-Barrón, Laura T. AU - Mittelman, David AU - Robison, Reid AU - Wang, Kai AU - Lyon, Gholson J. PY - 2017 DA - 2017/02/23 TI - Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine JO - BMC Medical Genomics SP - 10 VL - 10 IS - 1 AB - Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants. SN - 1755-8794 UR - https://doi.org/10.1186/s12920-017-0246-5 DO - 10.1186/s12920-017-0246-5 ID - Fang2017 ER -