Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0195-2.pdf
Reference15 articles.
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2. Liehr T. Cases with uniparental disomy. 2017. Accessed 15 Dec 2017.
3. Mackay DJG, Temple IK. Human imprinting disorders: principles, practice, problems and progress. Eur J Med Genet. 2017;60:618–26.
4. Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312:1870–9.
5. Matthijs G, Souche E, Alders M, et al. Guidelines for diagnostic next-generation sequencing. Eur J Human Genet. 2016;24:2–5.
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