Concepedia

Mutation Burden and I Index for Detection of Microsatellite Instability in Colorectal Cancer by Targeted Next-Generation Sequencing

Jeong Eun Kim, Sung‐Min Chun, Yong Sang Hong, Kyu‐pyo Kim, Sun Young Kim, Jihun Kim, Chang Ohk Sung, Eun Jeong Cho, Tae Won Kim, Se Jin Jang

Journal of Molecular Diagnostics · 2018 · 91 citations · 30 references

DOI

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30

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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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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PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

Dung T. Le, Jennifer N. Uram, Hao Wang et al. · New England Journal of Medicine · 2015 · 9.4K citations · Full text

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dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

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