Concepedia

A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions

Rockie Chong, Kimberly D. Insigne, David Yao, Christina P. Burghard, Jeffrey Wang, Yun-Hua Esther Hsiao, Eric M. Jones, Daniel B. Goodman, Xinshu Xiao, Sriram Kosuri

Molecular Cell · 2018 · 144 citations · 60 references

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60

HISAT: a fast spliced aligner with low memory requirements

Daehwan Kim, Ben Langmead, Steven L. Salzberg · Nature Methods · 2015 · 26.1K citations · Full text

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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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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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The Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K 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

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