How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
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DOI: 10.1002/jimd.12507
Abstract: Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has created tremendous improvement in achieving an accurate and timely molecular diagnosis for a greater number of patients, but it still leaves the… read more here.
Keywords: review genetic; diagnosis; proceed negative; negative exome ... See more keywords