Human VariationMedicineGeneticsHuman Genome VariationGenetic VariationGenomicsPopulation GenomicsPopulation GeneticsSequencing
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The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009
64.7K citations
A haplotype map of the human genome
Nature · 2005
5.9K citations
4.9K citations
A second generation human haplotype map of over 3.1 million SNPs
Liuda Ziaugra, Chibuzor Nkwodimmah, Missy Dixon et al. · Nature · 2007
Haplotype DeterminationGenotype-phenotype AssociationMedicine+7
4.5K citations
Accurate whole human genome sequencing using reversible terminator chemistry
David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008
3.7K citations