Published in Nat Genet on October 03, 2010
Genotype and SNP calling from next-generation sequencing data. Nat Rev Genet (2011) 8.34
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics (2011) 8.19
Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A (2011) 7.36
Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet (2011) 4.67
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Targeted RNA sequencing reveals the deep complexity of the human transcriptome. Nat Biotechnol (2011) 4.18
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Taxonomizing, sizing, and overcoming the incidentalome. Genet Med (2012) 3.82
Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A (2014) 3.47
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
Genetic heterogeneity of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A (2013) 3.25
A probabilistic disease-gene finder for personal genomes. Genome Res (2011) 3.23
Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing. Nature (2013) 3.06
The genetic landscape of mutations in Burkitt lymphoma. Nat Genet (2012) 3.03
Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A (2011) 2.93
Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med (2012) 2.70
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet (2011) 2.52
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet (2012) 2.50
Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly. Nat Biotechnol (2011) 2.45
SNP calling, genotype calling, and sample allele frequency estimation from New-Generation Sequencing data. PLoS One (2012) 2.37
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
ANGSD: Analysis of Next Generation Sequencing Data. BMC Bioinformatics (2014) 2.05
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet (2013) 1.93
Estimation of allele frequency and association mapping using next-generation sequencing data. BMC Bioinformatics (2011) 1.93
Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing. Carcinogenesis (2012) 1.84
Learning about human population history from ancient and modern genomes. Nat Rev Genet (2011) 1.74
Targeted enrichment of genomic DNA regions for next-generation sequencing. Brief Funct Genomics (2011) 1.63
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol (2015) 1.58
Estimating the mutation load in human genomes. Nat Rev Genet (2015) 1.57
A genome-wide comparison of the functional properties of rare and common genetic variants in humans. Am J Hum Genet (2011) 1.56
Modeling read counts for CNV detection in exome sequencing data. Stat Appl Genet Mol Biol (2011) 1.55
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia (2012) 1.55
Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome. PLoS Genet (2011) 1.54
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med (2014) 1.52
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discov Med (2011) 1.52
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency. Genome Res (2011) 1.47
Kaviar: an accessible system for testing SNV novelty. Bioinformatics (2011) 1.47
Steps to ensure accuracy in genotype and SNP calling from Illumina sequencing data. BMC Genomics (2012) 1.44
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet (2013) 1.43
Quantifying single nucleotide variant detection sensitivity in exome sequencing. BMC Bioinformatics (2013) 1.41
Quantifying population genetic differentiation from next-generation sequencing data. Genetics (2013) 1.41
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet (2011) 1.40
Evaluating empirical bounds on complex disease genetic architecture. Nat Genet (2013) 1.37
Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing. Nat Protoc (2011) 1.36
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat Biotechnol (2014) 1.36
Classic selective sweeps revealed by massive sequencing in cattle. PLoS Genet (2014) 1.33
Inferring causality and functional significance of human coding DNA variants. Hum Mol Genet (2012) 1.31
Large scale library generation for high throughput sequencing. PLoS One (2011) 1.31
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest (2011) 1.31
Patterns of coding variation in the complete exomes of three Neandertals. Proc Natl Acad Sci U S A (2014) 1.29
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry (2015) 1.28
Transcriptome-based exon capture enables highly cost-effective comparative genomic data collection at moderate evolutionary scales. BMC Genomics (2012) 1.28
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proc Natl Acad Sci U S A (2012) 1.26
Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet (2012) 1.24
Extensive X-linked adaptive evolution in central chimpanzees. Proc Natl Acad Sci U S A (2012) 1.23
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet (2011) 1.22
Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease. Genome Med (2012) 1.21
The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis Genotype Study (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc (2011) 1.18
Evidence of inbreeding depression on human height. PLoS Genet (2012) 1.16
The promise and limitations of population exomics for human evolution studies. Genome Biol (2011) 1.13
Estimating inbreeding coefficients from NGS data: Impact on genotype calling and allele frequency estimation. Genome Res (2013) 1.12
On the future of genetic risk assessment. J Community Genet (2012) 1.12
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circ Cardiovasc Genet (2012) 1.10
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nat Genet (2013) 1.10
Joint genotyping on the fly: identifying variation among a sequenced panel of inbred lines. Genome Res (2012) 1.09
The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood (2014) 1.08
Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet (2012) 1.07
A probabilistic method for the detection and genotyping of small indels from population-scale sequence data. Bioinformatics (2011) 1.04
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS Genet (2013) 1.04
Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed. J Clin Endocrinol Metab (2012) 1.04
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet (2013) 1.03
DNA sequencing: clinical applications of new DNA sequencing technologies. Circulation (2012) 1.03
Human genomic disease variants: a neutral evolutionary explanation. Genome Res (2012) 1.02
Meta-analysis indicates that common variants at the DISC1 locus are not associated with schizophrenia. Mol Psychiatry (2011) 1.02
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet (2011) 1.02
RNA editome in rhesus macaque shaped by purifying selection. PLoS Genet (2014) 1.02
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet (2011) 1.01
Targeted capture in evolutionary and ecological genomics. Mol Ecol (2015) 1.01
Estimators of the human effective sex ratio detect sex biases on different timescales. Am J Hum Genet (2010) 1.01
What is complex about complex disorders? Genome Biol (2012) 1.00
Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing. BMC Genomics (2012) 0.99
Malaria life cycle intensifies both natural selection and random genetic drift. Proc Natl Acad Sci U S A (2013) 0.99
Low-pass genome-wide sequencing and variant inference using identity-by-descent in an isolated human population. Genetics (2011) 0.99
Beyond the fourth wave of genome-wide obesity association studies. Nutr Diabetes (2012) 0.98
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat (2012) 0.95
A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers. PLoS One (2013) 0.95
Targeted resequencing of a genomic region influencing tameness and aggression reveals multiple signals of positive selection. Heredity (Edinb) (2011) 0.94
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing. BMC Med Genet (2012) 0.93
Pathway-based approaches for sequencing-based genome-wide association studies. Genet Epidemiol (2013) 0.90
Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach. Transl Psychiatry (2014) 0.89
Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One (2012) 0.89
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. PLoS One (2012) 0.89
CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects. Database (Oxford) (2014) 0.88
Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients. Carcinogenesis (2012) 0.88
Population-specific common SNPs reflect demographic histories and highlight regions of genomic plasticity with functional relevance. BMC Genomics (2014) 0.88
Drosophila functional elements are embedded in structurally constrained sequences. PLoS Genet (2013) 0.87
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. Mol Biol Evol (2016) 0.86
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome. Mol Vis (2013) 0.85
SOAP: short oligonucleotide alignment program. Bioinformatics (2008) 68.13
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
SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics (2009) 39.47
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
The effect of linkage on limits to artificial selection. Genet Res (1966) 16.21
SNP detection for massively parallel whole-genome resequencing. Genome Res (2009) 15.96
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Estimate of the mutation rate per nucleotide in humans. Genetics (2000) 15.08
Natural selection on protein-coding genes in the human genome. Nature (2005) 10.84
Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet (2008) 8.92
Population genetics of polymorphism and divergence. Genetics (1992) 7.72
Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc Natl Acad Sci U S A (2005) 5.94
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Evolution on the X chromosome: unusual patterns and processes. Nat Rev Genet (2006) 4.29
Joint inference of the distribution of fitness effects of deleterious mutations and population demography based on nucleotide polymorphism frequencies. Genetics (2007) 3.84
SNP frequencies in human genes an excess of rare alleles and differing modes of selection. Trends Genet (2000) 3.78
Recombination drives the evolution of GC-content in the human genome. Mol Biol Evol (2004) 3.50
Darwinian and demographic forces affecting human protein coding genes. Genome Res (2009) 3.01
Estimation of allele frequencies from high-coverage genome-sequencing projects. Genetics (2009) 2.81
Estimation of nucleotide diversity, disequilibrium coefficients, and mutation rates from high-coverage genome-sequencing projects. Mol Biol Evol (2008) 2.64
Accounting for bias from sequencing error in population genetic estimates. Mol Biol Evol (2007) 2.36
Inference of population genetic parameters in metagenomics: a clean look at messy data. Genome Res (2006) 2.17
Heterogeneous patterns of variation among multiple human x-linked Loci: the possible role of diversity-reducing selection in non-africans. Genetics (2004) 1.48
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
SOAP: short oligonucleotide alignment program. Bioinformatics (2008) 68.13
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
De novo assembly of human genomes with massively parallel short read sequencing. Genome Res (2009) 45.91
A human gut microbial gene catalogue established by metagenomic sequencing. Nature (2010) 43.63
A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78
SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics (2009) 39.47
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Enterotypes of the human gut microbiome. Nature (2011) 24.36
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
SOAPdenovo2: an empirically improved memory-efficient short-read de novo assembler. Gigascience (2012) 20.89
Characterization of microRNAs in serum: a novel class of biomarkers for diagnosis of cancer and other diseases. Cell Res (2008) 20.59
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
International network of cancer genome projects. Nature (2010) 20.35
Multifactorial intervention and cardiovascular disease in patients with type 2 diabetes. N Engl J Med (2003) 20.06
Effect of a multifactorial intervention on mortality in type 2 diabetes. N Engl J Med (2008) 18.27
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
SNP detection for massively parallel whole-genome resequencing. Genome Res (2009) 15.96
The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76