A holistic approach to maximise diagnostic output in trio exome sequencing
IntroductionRare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, pare...
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Frontiers Media S.A.,
2023-05-01T00:00:00Z.
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A1234.567 |
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