Concepedia

Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation

Wei Guo, Yanli Nie, Zhiqiang Yan, Xiaohui Zhu, Yuqian Wang, Shuo Guan, Ying Kuo, Wenxin Zhang, Xu Zhi, Yuan Wei,

Science China Life Sciences · 2019 · 12 citations · 34 references

DOI

Concepts

References

34

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green, Jonathan S. Berg, Wayne W. Grody et al. · Genetics in Medicine · 2013 · 2.5K citations · Full text

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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