PubRank

Goncalo Abecasis

Author PubWeight™ 308.64‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009 232.39
2 The variant call format and VCFtools. Bioinformatics 2011 25.88
3 Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012 17.12
4 Replicating genotype-phenotype associations. Nature 2007 16.11
5 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 2012 8.91
6 Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med 2014 5.47
7 Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med 2014 4.94
8 Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes 2008 4.20
9 E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 2010 3.31
10 Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet 2007 1.82
11 Toll-like receptor polymorphisms and age-related macular degeneration. Invest Ophthalmol Vis Sci 2008 1.18
12 Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Arch Gen Psychiatry 2012 1.08
13 Inflammation in the pathogenesis of age-related macular degeneration. Br J Ophthalmol 2008 1.00
14 In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. Psychophysiology 2014 0.91
15 Genetic association study of age-related macular degeneration in the Spanish population. Acta Ophthalmol 2010 0.88
16 No bias in linkage analysis. Am J Hum Genet 2004 0.77
17 Erratum: Whole-genome sequence-based analysis of thyroid function. Nat Commun 2015 0.77
18 SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. Eur J Hum Genet 2012 0.76