Concepedia

Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma

Janan Mohamad, Ofer Sarig, Liron Malki, Tom Rabinowitz, Sari Assaf, Kiril Malovitski, Eden Shkury, Talia Mayer, Dan Vodo, A. Peled,

Journal of Investigative Dermatology · 2020 · 30 citations · 33 references

DOI

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References

33

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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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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