Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Quentin TestardXavier VanhoyeKevin YauyMarie-Emmanuelle NaudGaelle VievilleFrancis RousseauBenjamin DauriatValentine MarquetSylvie BourthoumieuDavid GenevièveVincent GatinoisConstance WellsMarjolaine WillemsChristine CoubesLucile PinsonRodolphe DardAude TessierBérénice HervéFrançois VialardInes HarzallahRenaud TouraineBenjamin CognéWallid DebThomas BesnardOlivier PichonBéatrice LaudierLaurent MesnardAlice DoreilleTiffany BusaChantal MissirianVéronique SatreCharles CouttonTristan CelseRadu HarbuzLaure RaymondJean-François TalyJulien ThevenonPublished in: Journal of medical genetics (2022)
Combining single-nucleotide variant (SNV) and CNV detection increases the suitability of exome sequencing as a first-tier diagnostic test for suspected rare Mendelian disorders. Before considering the prescription of a WGS after a negative WES, a careful reanalysis with updated CNV calling and SNV annotation should be considered.