Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms

摘要

BackgroundIndels are an important cause of human variation and central to the study of human disease. The 1000 Genomes Project Low-Coverage Pilot identified over 1.3 million indels shorter than 50 bp, of which over 890 were identified as potentially disruptive variants. Yet, despite their ubiquity, the local genomic characteristics of indels remain unexplored.