Concepedia

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

Shinobu Tamura, Kohei Higuchi, Masaharu Tamaki, Chizuko Inoue, Ryoko AWAZAWA, Noriko Mitsuki, Yuka Nakazawa, Hiroyuki Mishima, Kenzo Takahashi, Osamu Kondo,

Clinical Immunology · 2015 · 34 citations · 30 references

DOI

Concepts

References

30

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

, , +17

The Human Genome Browser at UCSC

W. James Kent, Charles W. Sugnet, Terrence S. Furey et al. · Genome Research · 2002 · 10.9K citations · Full text

, , +9

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

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Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009

Sung‐Yun Pai, Brent R. Logan, Linda M. Griffith et al. · New England Journal of Medicine · 2014 · 771 citations · Full text

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