Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.,Genetics in Medicine

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Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.41
Ahmed Alfares ₁ , Taghrid Aloraini ₂ , Lamia Al Subaie ₃ , Abdulelah Alissa ₂ , Ahmed Al Qudsi ₂ , Ahmed Alahmad ₂ , Fuad Al Mutairi _{3,

4} , Abdulrahman Alswaid _{3,

4} , Ali Alothaim _{2,

4} , Wafaa Eyaid _{3,

4} , Mohammed Albalwi _{2,

4} , Saeed Alturki _{2,

4} , Majid Alfadhel _{3,

4}

Affiliation

Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed.

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