Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

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Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8K citations · Full text

Human Variation, Medicine, Genetics +6

dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.7K citations · Full text

REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms

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LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

Brendan Bulik‐Sullivan, Po‐Ru Loh, Hilary K. Finucane et al. · Nature Genetics · 2015 · 6K citations · Full text

Genome-wide Association Study, Genetic Determinant, Genotype-phenotype Association +9