Published in Nat Genet on June 12, 2011
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Rate of de novo mutations and the importance of father's age to disease risk. Nature (2012) 11.92
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics (2011) 8.19
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science (2012) 5.50
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
Clan genomics and the complex architecture of human disease. Cell (2011) 4.53
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03
A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00
Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med (2012) 3.94
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med (2013) 3.90
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells. Nature (2012) 3.74
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet (2012) 3.58
Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet (2012) 3.56
Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell (2012) 3.52
The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35
Variation in the mutation rate across mammalian genomes. Nat Rev Genet (2011) 3.09
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet (2014) 2.84
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Estimating the human mutation rate using autozygosity in a founder population. Nat Genet (2012) 2.44
A direct characterization of human mutation based on microsatellites. Nat Genet (2012) 2.38
Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics (2014) 2.37
Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33
Sequencing studies in human genetics: design and interpretation. Nat Rev Genet (2013) 2.27
Single cell genomics: advances and future perspectives. PLoS Genet (2014) 2.16
Revisiting an old riddle: what determines genetic diversity levels within species? PLoS Biol (2012) 2.15
lobSTR: A short tandem repeat profiler for personal genomes. Genome Res (2012) 2.08
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med (2013) 2.03
Rates and fitness consequences of new mutations in humans. Genetics (2012) 2.01
Clock-like mutational processes in human somatic cells. Nat Genet (2015) 1.91
Precise estimates of mutation rate and spectrum in yeast. Proc Natl Acad Sci U S A (2014) 1.81
Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am J Hum Genet (2012) 1.78
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
DeNovoGear: de novo indel and point mutation discovery and phasing. Nat Methods (2013) 1.65
Exploring population size changes using SNP frequency spectra. Nat Genet (2015) 1.64
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Res (2014) 1.63
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet (2013) 1.61
Properties and rates of germline mutations in humans. Trends Genet (2013) 1.58
A likelihood-based framework for variant calling and de novo mutation detection in families. PLoS Genet (2012) 1.57
Extensive genetic variation in somatic human tissues. Proc Natl Acad Sci U S A (2012) 1.56
Replicative mechanisms for CNV formation are error prone. Nat Genet (2013) 1.54
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics (2013) 1.51
Rates and genomic consequences of spontaneous mutational events in Drosophila melanogaster. Genetics (2013) 1.48
Global diversity, population stratification, and selection of human copy-number variation. Science (2015) 1.48
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet (2014) 1.46
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet (2013) 1.40
Mapping rare and common causal alleles for complex human diseases. Cell (2011) 1.38
Timing, rates and spectra of human germline mutation. Nat Genet (2015) 1.35
An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree. Am J Hum Genet (2013) 1.32
Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing. Nat Genet (2014) 1.28
Estimate of the spontaneous mutation rate in Chlamydomonas reinhardtii. Genetics (2012) 1.27
Variation in base-substitution mutation in experimental and natural lineages of Caenorhabditis nematodes. Genome Biol Evol (2012) 1.20
Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res (2012) 1.16
Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet (2014) 1.14
Estimation of the spontaneous mutation rate per nucleotide site in a Drosophila melanogaster full-sib family. Genetics (2013) 1.13
Nonhuman genetics. Strong male bias drives germline mutation in chimpanzees. Science (2014) 1.13
Rare allelic forms of PRDM9 associated with childhood leukemogenesis. Genome Res (2012) 1.09
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. Am J Hum Genet (2015) 1.09
Human-specific CpG "beacons" identify loci associated with human-specific traits and disease. Epigenetics (2012) 1.07
Contrasting properties of gene-specific regulatory, coding, and copy number mutations in Saccharomyces cerevisiae: frequency, effects, and dominance. PLoS Genet (2012) 1.07
Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data. BMC Genomics (2014) 1.07
Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing. Genome Res (2015) 1.06
Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet (2014) 1.05
Characteristics of de novo structural changes in the human genome. Genome Res (2015) 1.04
Rare variant detection using family-based sequencing analysis. Proc Natl Acad Sci U S A (2013) 1.04
The influence of genomic context on mutation patterns in the human genome inferred from rare variants. Genome Res (2013) 1.04
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree. Genome Res (2016) 1.02
Recombination regulator PRDM9 influences the instability of its own coding sequence in humans. Proc Natl Acad Sci U S A (2012) 1.02
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline. Proc Natl Acad Sci U S A (2013) 1.00
An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa. Genome Res (2014) 0.99
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet (2012) 0.99
Genetic testing in nephrotic syndrome--challenges and opportunities. Nat Rev Nephrol (2013) 0.99
Estimation of the spontaneous mutation rate in Heliconius melpomene. Mol Biol Evol (2014) 0.99
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. J Clin Invest (2014) 0.98
Genetic mosaics and the germ line lineage. Genes (Basel) (2015) 0.98
From genetic discovery to future personalized health research. N Biotechnol (2012) 0.98
Genome analyses substantiate male mutation bias in many species. Bioessays (2011) 0.97
Efficient inference of population size histories and locus-specific mutation rates from large-sample genomic variation data. Genome Res (2015) 0.96
Germline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator mice. Genome Res (2015) 0.96
Limits and patterns of cytomegalovirus genomic diversity in humans. Proc Natl Acad Sci U S A (2015) 0.94
Positive natural selection of TRIB2, a novel gene that influences visceral fat accumulation, in East Asia. Hum Genet (2012) 0.93
Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing. Bioinformatics (2013) 0.92
A family-based probabilistic method for capturing de novo mutations from high-throughput short-read sequencing data. Stat Appl Genet Mol Biol (2012) 0.92
Diversity of human tRNA genes from the 1000-genomes project. RNA Biol (2013) 0.92
Spurious transcription factor binding: non-functional or genetically redundant? Bioessays (2014) 0.92
Older males beget more mutations. Nat Genet (2012) 0.91
Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates. Am J Hum Genet (2015) 0.91
A Bayesian framework for de novo mutation calling in parents-offspring trios. Bioinformatics (2014) 0.90
New observations on maternal age effect on germline de novo mutations. Nat Commun (2016) 0.90
Interpreting de novo Variation in Human Disease Using denovolyzeR. Curr Protoc Hum Genet (2015) 0.90
NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet (2014) 0.90
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions. Mol Genet Metab (2012) 0.89
New insights into the generation and role of de novo mutations in health and disease. Genome Biol (2016) 0.88
Increased paternal age and the influence on burden of genomic copy number variation in the general population. Hum Genet (2013) 0.88
Variation in heterozygosity predicts variation in human substitution rates between populations, individuals and genomic regions. PLoS One (2013) 0.88
Identification of genetic variation on the horse y chromosome and the tracing of male founder lineages in modern breeds. PLoS One (2013) 0.88
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Estimate of the mutation rate per nucleotide in humans. Genetics (2000) 15.08
Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees. Am J Hum Genet (2001) 9.35
Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases. Hum Mutat (2003) 8.35
Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci U S A (2010) 7.07
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol (2009) 5.70
Evolution of the mutation rate. Trends Genet (2010) 4.83
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet (2007) 4.10
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet (2010) 3.69
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A (2010) 3.13
A molecular approach to estimating the human deleterious mutation rate. Hum Mutat (1993) 2.76
Unexpectedly similar rates of nucleotide substitution found in male and female hominids. Nature (2000) 2.39
How much do we know about spontaneous human mutation rates? Environ Mol Mutagen (1993) 2.34
The mutation rate of the gene for haemophilia, and its segregation ratios in males and females. Ann Eugen (1947) 1.93
Strong and weak male mutation bias at different sites in the primate genomes: insights from the human-chimpanzee comparison. Mol Biol Evol (2005) 1.90
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Global variation in copy number in the human genome. Nature (2006) 57.50
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
Distribution and intensity of constraint in mammalian genomic sequence. Genome Res (2005) 18.85
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Replicating genotype-phenotype associations. Nature (2007) 16.11
A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature (2006) 14.78
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet (2008) 9.51
Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
The Drosophila melanogaster Genetic Reference Panel. Nature (2012) 7.94
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
A coalescent-based method for detecting and estimating recombination from gene sequences. Genetics (2002) 7.41
Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A (2011) 7.36
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet (2006) 6.98
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry (2012) 6.34
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
The genetics of quantitative traits: challenges and prospects. Nat Rev Genet (2009) 5.99
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50
Systems genetics of complex traits in Drosophila melanogaster. Nat Genet (2009) 5.41
Sublethal antibiotic treatment leads to multidrug resistance via radical-induced mutagenesis. Mol Cell (2010) 5.33
Large, rare chromosomal deletions associated with severe early-onset obesity. Nature (2009) 5.20
Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
A robust statistical method for case-control association testing with copy number variation. Nat Genet (2008) 4.78
Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry (2009) 4.74
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
Guilt beyond a reasonable doubt. Nat Genet (2007) 4.56
Characterization of evolutionary rates and constraints in three Mammalian genomes. Genome Res (2004) 4.45
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Sequence and analysis of rice chromosome 4. Nature (2002) 4.39
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res (2010) 4.22
Classic selective sweeps were rare in recent human evolution. Science (2011) 4.09
Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet (2011) 4.01
The UK10K project identifies rare variants in health and disease. Nature (2015) 3.89
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. N Engl J Med (2009) 3.88
The genetic legacy of the Mongols. Am J Hum Genet (2003) 3.84
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. Am J Hum Genet (2010) 3.69
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol (2007) 3.54
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
Genome-wide variation and identification of vaccine targets in the Plasmodium falciparum genome. Nat Genet (2006) 3.45
Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet (2009) 3.33
Stochastic yet biased expression of multiple Dscam splice variants by individual cells. Nat Genet (2004) 3.27
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet (2011) 3.14
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry (2010) 3.13
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci U S A (2010) 3.13
The population genetics of structural variation. Nat Genet (2007) 3.07
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing. Nature (2016) 2.98
Great ape genetic diversity and population history. Nature (2013) 2.95
Pacific biosciences sequencing technology for genotyping and variation discovery in human data. BMC Genomics (2012) 2.92
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet (2006) 2.92
Is one solution good enough? Nat Struct Mol Biol (2006) 2.91
Using whole-genome sequence data to predict quantitative trait phenotypes in Drosophila melanogaster. PLoS Genet (2012) 2.90
Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol (2007) 2.89
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am J Hum Genet (2011) 2.86
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history. PLoS Genet (2006) 2.80
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet (2012) 2.80
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis? Ann Neurol (2007) 2.76
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet (2002) 2.72
Copy number variation and evolution in humans and chimpanzees. Genome Res (2008) 2.69
Recombination hotspots and population structure in Plasmodium falciparum. PLoS Biol (2005) 2.67
Epistasis dominates the genetic architecture of Drosophila quantitative traits. Proc Natl Acad Sci U S A (2012) 2.59
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet (2003) 2.58