Published in Genom Data on December 18, 2014
Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet (2000) 336.52
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
dbSNP: the NCBI database of genetic variation. Nucleic Acids Res (2001) 76.97
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Circos: an information aesthetic for comparative genomics. Genome Res (2009) 40.02
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science (2009) 21.24
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet (1999) 18.22
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res (2013) 14.23
Ensembl 2013. Nucleic Acids Res (2012) 11.70
Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet (2007) 9.61
ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res (2013) 9.31
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics (2013) 8.79
Single-molecule sequencing of an individual human genome. Nat Biotechnol (2009) 8.35
The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Genome Res (2009) 7.87
Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet (2008) 7.54
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res (2013) 4.42
Mathematical multi-locus approaches to localizing complex human trait genes. Nat Rev Genet (2003) 4.18
Ancient human genomes suggest three ancestral populations for present-day Europeans. Nature (2014) 3.80
The dawn of human matrilineal diversity. Am J Hum Genet (2008) 3.60
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups. Hum Mutat (2010) 3.02
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes (2011) 2.09
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. PLoS One (2012) 1.96
Population genetic structure of the people of Qatar. Am J Hum Genet (2010) 1.91
Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the gate of tears. Am J Hum Genet (2004) 1.84
Detecting and annotating genetic variations using the HugeSeq pipeline. Nat Biotechnol (2012) 1.72
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet (2013) 1.72
Consanguinity among the Kuwaiti population. Clin Genet (1985) 1.72
Visualizing next-generation sequencing data with JBrowse. Brief Bioinform (2012) 1.70
Deep whole-genome sequencing of 100 southeast Asian Malays. Am J Hum Genet (2013) 1.55
Extensive female-mediated gene flow from sub-Saharan Africa into near eastern Arab populations. Am J Hum Genet (2003) 1.46
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet (2003) 1.44
Mitochondrial DNA structure in the Arabian Peninsula. BMC Evol Biol (2008) 1.39
Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet (1994) 1.26
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing. J Med Genet (2013) 1.20
Familial Mediterranean fever--a review. Genet Med (2011) 1.19
Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics. Genet Med (2011) 1.15
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. PLoS One (2009) 1.14
The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma. Am J Hum Genet (2000) 1.14
Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions. BMC Genet (2009) 1.07
AMY-tree: an algorithm to use whole genome SNP calling for Y chromosomal phylogenetic applications. BMC Genomics (2013) 1.01
Characterization of human control region sequences of the African American SWGDAM forensic mtDNA data set. Forensic Sci Int (2005) 1.00
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat (2008) 1.00
The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations. Eur J Hum Genet (2009) 0.96
Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. J Inherit Metab Dis (1997) 0.95
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. PLoS One (2012) 0.89
Genetic substructure of Kuwaiti population reveals migration history. PLoS One (2013) 0.89
Premotor biomarkers for Parkinson's disease - a promising direction of research. Transl Neurodegener (2012) 0.86
Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium. Circ Cardiovasc Genet (2012) 0.84
Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data. Heredity (Edinb) (2013) 0.83
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. Hum Mol Genet (2013) 0.83
Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry. PLoS One (2014) 0.82
MtDNA diversity of Ghana: a forensic and phylogeographic view. Forensic Sci Int Genet (2011) 0.82
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III). BMC Med Genet (2013) 0.79
Screening of 336 single-nucleotide polymorphisms in 85 obesity-related genes revealed McKusick-Kaufman syndrome gene variants are associated with metabolic syndrome. J Hum Genet (2009) 0.76
A review of adult obesity prevalence, trends, risk factors, and epidemiologic methods in Kuwait. J Obes (2013) 0.87
Genetic risk variants for metabolic traits in Arab populations. Sci Rep (2017) 0.75