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Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing
2012
BMC Genomics
Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its dramatically reduced cost. In fact, exome sequencing has been successfully applied to identify the cause of several Mendelian disorders, such as Miller and Schinzel-Giedio syndrome. However, there remain great challenges in handling the huge data generated by
doi:10.1186/1471-2164-13-692
pmid:23231371
pmcid:PMC3539923
fatcat:nzbfmm3csrgf5g7p6ca2hzfjtq