Publication | Closed Access
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
191
Citations
28
References
2018
Year
Functional GenomicsSequencingMendelian DisorderGenetic DisorderMedicineGeneticsMonths Boosts DiagnosisNext-generation SequencingPathologyGenomicsMendelian DisordersMolecular DiagnosticsBioinformaticsVariant Interpretation
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