Concepedia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Ziv Gan‐Or, Naïma Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B. Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B. Laurent, Daniel Rochefort, Dan Spiegelman,

The American Journal of Human Genetics · 2016 · 114 citations · 35 references

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35

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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Stages of embryonic development of the zebrafish

Charles B. Kimmel, William W. Ballard, Seth R. Kimmel et al. · Developmental Dynamics · 1995 · 12.3K citations

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

Nature · 2012 · 8.2K citations · Full text

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