Accurate and exact CNV identification from targeted high-throughput sequence data

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990 · 92.8K citations

Bioinformatics, Engineering, Information Retrieval +10

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.7K citations · Full text

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Heng Li, Jue Ruan, Richard Durbin · Genome Research · 2008 · 2.7K citations · Full text

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad, Dalila Pinto, Richard Redon et al. · Nature · 2009 · 2K citations

Genome Study, Medicine, Genetics +9