Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing | Zendy

Ahmed Alfares | Zendy; Taghrid Aloraini | Zendy; Lamia Al subaie | Zendy; Abdulelah AlIssa | Zendy; Ahmed Al Qudsi | Zendy; Ahmed Alahmad | Zendy; Fuad Al Mutairi | Zendy; Abdulrahman Alswaid | Zendy; Ali Alothaim | Zendy; Wafaa Eyaid | Zendy; Mohammed Al Balwi | Zendy; Saeed Al-Turki | Zendy; Majid Alfadhel | Zendy

Open Access

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

Author(s) -

Ahmed Alfares,

Taghrid Aloraini,

Lamia Al subaie,

Abdulelah AlIssa,

Ahmed Al Qudsi,

Ahmed Alahmad,

Fuad Al Mutairi,

Abdulrahman Alswaid,

Ali Alothaim,

Wafaa Eyaid,

Mohammed Al Balwi,

Saeed Al-Turki,

Majid Alfadhel

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2018.41

Subject(s) - exome sequencing , whole genome sequencing , computational biology , exome , dna sequencing , genome , biology , genetics , cancer genome sequencing , mutation , gene

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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