Concepedia

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

Kaan Boztuǧ, Päivi M. Järvinen, Elisabeth Salzer, Tomáš Raček, Sebastian Mönch, Wojciech Garncarz, E. Michael Gertz, Alejandro A. Schäffer, Aristotelis Antonopoulos, Stuart M. Haslam,

Nature Genetics · 2014 · 142 citations · 45 references

DOI

Concepts

References

45

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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Clustal W and Clustal X version 2.0

Mark Larkin, Gordon Blackshields, Nigel P. Brown et al. · Bioinformatics · 2007 · 29.1K 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

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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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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