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Variant detection sensitivity and biases in whole genome and exome sequencing
2014
BMC Bioinformatics
Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly falling whole genome sequencing (WGS) costs, much research and increasingly the clinical use of sequence data is likely to remain focused on the protein coding exome. We set out to quantify and understand how WGS compares with the targeted capture and sequencing of the exome (exome-seq), for the specific purpose of identifying single
doi:10.1186/1471-2105-15-247
pmid:25038816
pmcid:PMC4122774
fatcat:43yv3xlctfh65nz5nclfbltxeu