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

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

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  • NSTL
  • Springer Nature
Purpose: 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.

consanguinitydetection ratereanalysis of raw datawhole-exome sequencingwhole-genome sequencing

Alahmad, Ahmed、Al Mutairi, Fuad、Alswaid, Abdulrahman、Alothaim, Ali、Eyaid, Wafaa、Albalwi, Mohammed、Alturki, Saeed、Alfadhel, Majid、Alfares, Ahmed、Aloraini, Taghrid、Al Subaie, Lamia、Alissa, Abdulelah、Al Qudsi, Ahmed

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King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia

King Abdul Aziz Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia

Qassim Univ, Dept Pediat, Coll Med, Qasim, Saudi Arabia

2018

10.1038/gim.2018.41

Genetics in medicine

Genetics in medicine

SCI
ISSN：1098-3600
年,卷(期)：2018.20(11)
  • 42
  • 19