Concepedia

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

Emily C. Oates, Alexander M. Rossor, Majid Hafezparast, Michael Gonzalez, Fiorella Speziani, Daniel G. MacArthur, Monkol Lek, Ellen Cottenie, Mariacristina Scoto, A. Reghan Foley,

The American Journal of Human Genetics · 2013 · 192 citations · 18 references

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18

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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The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler, Maithreyan Srinivasan, Yufeng Shen et al. · Nature · 2008 · 1.8K citations · Full text

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

William McLaren, Bethan Pritchard, Daniel Ríos et al. · Bioinformatics · 2010 · 1.7K citations · Full text

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Bicaudal-D regulates COPI-independent Golgi–ER transport by recruiting the dynein–dynactin motor complex

Theodoros Matanis, Anna Akhmanova, Phebe S. Wulf et al. · Nature Cell Biology · 2002 · 411 citations

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