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1.
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
NPJ Genom Med
; 5: 33, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32821428
2.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Sci Transl Med
; 11(489)2019 04 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-31019026
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