Concepedia

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing

Maria Pia Leone, Pietro Palumbo, Rocco Pio Ortore, Stefano Castellana, Orazio Palumbo, Salvatore Melchionda, Teresa Palladino, Raffaella Stallone, Tommaso Mazza, R Cocchi,

Molecular and Cellular Probes · 2017 · 10 citations · 22 references

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22

Trimmomatic: a flexible trimmer for Illumina sequence data

Anthony Bolger, Marc Lohse, Björn Usadel · Bioinformatics · 2014 · 69.7K citations · Full text

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Fast gapped-read alignment with Bowtie 2

Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 61.1K citations

, , +11

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

, , +17

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K 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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