Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

Daniyal Daud, Helen Griffin, Konstantinos Douroudis, Stephanie Kleinle, Gail Eglon, Angela Pyle, Patrick F. Chinnery, Rita Horvath*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology