Development of a common platform for the noninvasive prenatal diagnosis of X‐linked diseases
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DOI: 10.1002/pd.5337
Abstract: The aim of this study was to develop a common targeted massively parallel sequencing platform for the noninvasive prenatal diagnosis (NIPD) of multiple X‐linked diseases. read more here.
Keywords: platform noninvasive; diagnosis; development common; prenatal diagnosis ... See more keywords
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases
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DOI: 10.1093/brain/awab006
Abstract: Abstract To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp… read more here.
Keywords: expansion; long read; c9orf72 linked; clinicopathological associations ... See more keywords