Concepedia

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex M. Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia Cornejo,

The American Journal of Human Genetics · 2021 · 42 citations · 16 references

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16

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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From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

, , +14

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations

Sneha Rath, Rohit Sharma, Rahul Gupta et al. · Nucleic Acids Research · 2020 · 2K citations · Full text

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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

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Multiple loci associated with indices of renal function and chronic kidney disease

Anna Köttgen, Nicole L. Glazer, Abbas Dehghan et al. · Nature Genetics · 2009 · 658 citations · Full text

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