全部文献期刊会议图书|学者科研项目
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作者:Christopher M. Watson , Nick Camm ...
来源:[J].The Journal of Molecular Diagnostics(IF 3.952), 2017
摘要:Like many clinical diagnostic laboratories, we undertake routine investigation of cancer-predisposed individuals by high-throughput sequencing of patient DNA that has been target-enriched for genes associated with hereditary cancer. Accurate diagnosis using such reagents req...
作者:Christopher M. Watson , Laura A. Crinnion ...
来源:[J].Laboratory Investigation: Advancing the understanding of human and experimental disease(IF 3.961), 2020, Vol.100 (9), pp.135-146
摘要:Abstract(#br)The widespread use of genome-wide diagnostic screening methods has greatly increased the frequency with which incidental (but possibly pathogenic) copy number changes affecting single genes are detected. These findings require validation to allow appropriate cli...
作者:Christopher M. Watson , Kristin D. Kernohan ...
来源:[J].The American Journal of Human Genetics(IF 11.202), 2018, Vol.103 (5), pp.727-739
摘要:Primary defects in motile cilia result in dysfunction of the apparatus responsible for generating fluid flows. Defects in these mechanisms underlie disorders characterized by poor mucus clearance, resulting in susceptibility to chronic recurrent respiratory infections, often asso...
作者:Christopher M. Watson , Phillip A. Chambers ...
来源:[J].BioMed Research International, 2015, Vol.2015
摘要:Detection of clinically actionable mutations in diagnostic tumour specimens aids in the selection of targeted therapeutics. With an ever increasing number of clinically significant mutations identified, tumour genetic diagnostics is moving from single to multigene analysis. As it...
作者:Christopher M. Watson , Philip Dean ...
来源:[J].Human Mutation(IF 5.213), 2020, Vol.41 (2), pp.525-531
摘要:Abstract(#br)The diagnostic deployment of massively parallel short‐read next‐generation sequencing (NGS) has greatly improved genetic test availability, speed, and diagnostic yield, particularly for rare inherited disorders. Nonetheless, diagnostic approaches based on s...

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