Concepedia

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y. Hehir‐Kwa, Stefan H. Lelieveld, Steven Castelein, Christian Gilissen, Ilse J. de Wijs, R.J.C. Admiraal,

European Journal of Human Genetics · 2016 · 148 citations · 33 references

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References

33

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slavé Petrovski, Quanli Wang, Erin L. Heinzen et al. · PLoS Genetics · 2013 · 993 citations · Full text

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A de novo paradigm for mental retardation

Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen et al. · Nature Genetics · 2010 · 854 citations

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Copy number variation detection and genotyping from exome sequence data

Niklas Krumm, Peter H. Sudmant, Arthur Ko et al. · Genome Research · 2012 · 676 citations · Full text

, , +17