Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 64.7K citations · Full text

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

Strategies for multilocus linkage analysis in humans.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · Proceedings of the National Academy of Sciences · 1984 · 2.6K citations · Full text

Genetic Analysis, Linkage Disequilibrium, Genotype-phenotype Association +14

Prevalence of Hypertrophic Cardiomyopathy in a General Population of Young Adults

Barry J. Maron, Julius M. Gardin, John M. Flack et al. · Circulation · 1995 · 2.2K citations · Full text