نتایج جستجو برای: exome sequencing

تعداد نتایج: 127939  

Journal: :New England Journal of Medicine 2019

Journal: :Neurology: Clinical Practice 2016

2012
Iwanka Kozarewa Juan Manuel Rosa-Rosa Christopher P. Wardell Brian A. Walker Kerry Fenwick Ioannis Assiotis Costas Mitsopoulos Marketa Zvelebil Gareth J. Morgan Alan Ashworth Christopher J.

Next generation DNA sequencing (NGS) technologies have revolutionized the pace at which whole genome and exome sequences can be generated. However, despite these advances, many of the methods for targeted resequencing, such as the generation of high-depth exome sequences, are somewhat limited by the relatively large amounts of starting DNA that are normally required. In the case of tumour analy...

2014
Fiona L. Mackie Keren J. Carss Sarah C. Hillman Matthew E. Hurles Mark D. Kilby

Prenatal diagnostic testing is a rapidly advancing field. An accurate diagnosis of structural anomalies and additional abnormalities in fetuses with structural anomalies is important to allow "triage" and designation of prognosis. This will allow parents to make an informed decision relating to the pregnancy. This review outlines the current tests used in prenatal diagnosis, focusing particular...

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