A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing

Dramatically expanding our ability for clinical genetic testing for inherited conditions and complex diseases such as cancer, next generation sequencing (NGS) technologies are allowing for rapid interrogation of thousands of genes and identification of millions of variants. Variant annotation, the p...

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Main Authors: Sachleen Tuteja (Author), Sabah Kadri (Author), Kai Lee Yap (Author)
Format: Book
Published: Elsevier, 2022-01-01T00:00:00Z.
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3rd Floor Main Library

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