Published in Genome Biol on July 25, 2011
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA (2014) 6.46
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med (2013) 2.72
Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst (2014) 2.23
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood (2014) 1.81
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med (2016) 1.74
Exome sequencing generates high quality data in non-target regions. BMC Genomics (2012) 1.72
Variant callers for next-generation sequencing data: a comparison study. PLoS One (2013) 1.50
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
An open access pilot freely sharing cancer genomic data from participants in Texas. Sci Data (2016) 1.42
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet (2013) 1.37
The effect of strand bias in Illumina short-read sequencing data. BMC Genomics (2012) 1.34
The role and challenges of exome sequencing in studies of human diseases. Front Genet (2013) 1.33
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Hum Mutat (2015) 1.32
Three-stage quality control strategies for DNA re-sequencing data. Brief Bioinform (2013) 1.30
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab (2015) 1.11
Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. Cell Rep (2016) 1.11
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet (2014) 1.10
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. Circ Cardiovasc Genet (2015) 1.09
Gene expression, single nucleotide variant and fusion transcript discovery in archival material from breast tumors. PLoS One (2013) 1.07
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med (2015) 1.06
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol (2014) 1.03
Targeted capture in evolutionary and ecological genomics. Mol Ecol (2015) 1.01
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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A (2013) 0.97
Achieving high-sensitivity for clinical applications using augmented exome sequencing. Genome Med (2015) 0.94
Single-nucleotide polymorphism markers from de-novo assembly of the pomegranate transcriptome reveal germplasm genetic diversity. PLoS One (2014) 0.94
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet (2014) 0.94
High-throughput sequencing in mitochondrial DNA research. Mitochondrion (2014) 0.93
Identification of cis-suppression of human disease mutations by comparative genomics. Nature (2015) 0.91
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet (2016) 0.91
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. Genome Med (2013) 0.90
Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet (2014) 0.88
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data. Nucleic Acids Res (2014) 0.87
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet (2013) 0.87
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes. PLoS One (2015) 0.86
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol (2014) 0.86
Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med (2015) 0.85
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet (2016) 0.84
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry (2015) 0.84
Improved variant calling accuracy by merging replicates in whole-exome sequencing studies. Biomed Res Int (2014) 0.83
Exome sequencing in familial corticobasal degeneration. Parkinsonism Relat Disord (2013) 0.82
ORegAnno 3.0: a community-driven resource for curated regulatory annotation. Nucleic Acids Res (2015) 0.82
Genome measures used for quality control are dependent on gene function and ancestry. Bioinformatics (2014) 0.81
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet (2017) 0.80
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet (2015) 0.80
SNP discovery in European anchovy (Engraulis encrasicolus, L) by high-throughput transcriptome and genome sequencing. PLoS One (2013) 0.79
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). Hum Mol Genet (2013) 0.79
Whole genome sequence analysis of serum amino acid levels. Genome Biol (2016) 0.79
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet (2015) 0.79
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet (2015) 0.78
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol (2016) 0.78
Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics (2017) 0.76
Clinical genomics: from a truly personal genome viewpoint. Hum Genet (2016) 0.76
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med (2016) 0.76
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A (2015) 0.76
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med (2017) 0.75
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med (2015) 0.75
Alternate-locus aware variant calling in whole genome sequencing. Genome Med (2016) 0.75
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. Cold Spring Harb Mol Case Stud (2017) 0.75
Non-malignant respiratory epithelial cells preferentially proliferate from resected non-small cell lung cancer specimens cultured under conditionally reprogrammed conditions. Oncotarget (2016) 0.75
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harb Mol Case Stud (2016) 0.75
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud (2017) 0.75
Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet (2017) 0.75
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet (2017) 0.75
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A (2017) 0.75
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients. Mol Genet Genomic Med (2017) 0.75
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet (2017) 0.75
Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study. PLoS One (2017) 0.75
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
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The International HapMap Project. Nature (2003) 73.65
Prediction of complete gene structures in human genomic DNA. J Mol Biol (1997) 58.76
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Alternative isoform regulation in human tissue transcriptomes. Nature (2008) 52.76
NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins. Nucleic Acids Res (2006) 48.10
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
miRBase: tools for microRNA genomics. Nucleic Acids Res (2007) 38.61
Human DNA methylomes at base resolution show widespread epigenomic differences. Nature (2009) 34.27
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res (2008) 26.36
Genome-wide in situ exon capture for selective resequencing. Nat Genet (2007) 19.97
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
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
Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res (2009) 14.90
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
The UCSC genome browser database: update 2007. Nucleic Acids Res (2006) 13.04
The UCSC Genome Browser Database: update 2009. Nucleic Acids Res (2008) 10.31
Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
The vertebrate genome annotation (Vega) database. Nucleic Acids Res (2007) 7.53
BFAST: an alignment tool for large scale genome resequencing. PLoS One (2009) 7.48
Bayesian Markov chain Monte Carlo sequence analysis reveals varying neutral substitution patterns in mammalian evolution. Proc Natl Acad Sci U S A (2004) 7.42
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons. Science (2003) 5.04
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
Whole exome capture in solution with 3 Gbp of data. Genome Biol (2010) 4.23
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
ORegAnno: an open-access community-driven resource for regulatory annotation. Nucleic Acids Res (2007) 3.80
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Transcription-associated mutational asymmetry in mammalian evolution. Nat Genet (2003) 3.52
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09
Association of increased spontaneous mutation rates with high levels of transcription in yeast. Science (1995) 3.03
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
ORegAnno: an open access database and curation system for literature-derived promoters, transcription factor binding sites and regulatory variation. Bioinformatics (2006) 2.93
Alu sequences in the coding regions of mRNA: a source of protein variability. Trends Genet (1994) 2.49
The rate of hydrolytic deamination of 5-methylcytosine in double-stranded DNA. Nucleic Acids Res (1994) 2.37
Increased transcription levels induce higher mutation rates in a hypermutating cell line. J Immunol (2001) 2.11
CONTRAST: a discriminative, phylogeny-free approach to multiple informant de novo gene prediction. Genome Biol (2007) 2.01
The birth of new exons: mechanisms and evolutionary consequences. RNA (2007) 1.72
Identification of unannotated exons of low abundance transcripts in Drosophila melanogaster and cloning of a new serine protease gene upregulated upon injury. BMC Genomics (2007) 0.88
Revealing the hidden relationship between nucleosomes and splicing. Cell Cycle (2009) 0.85
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Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
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
Genome-wide in situ exon capture for selective resequencing. Nat Genet (2007) 19.97
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science (2011) 11.12
SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol (2005) 10.04
The Atlas genome assembly system. Genome Res (2004) 9.78
Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res (2005) 8.38
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature (2012) 8.31
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
A catalog of reference genomes from the human microbiome. Science (2010) 8.10
Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biol (2002) 8.07
The Drosophila melanogaster Genetic Reference Panel. Nature (2012) 7.94
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science (2009) 7.64
Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nat Biotechnol (2011) 7.53
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
The DNA sequence of the human X chromosome. Nature (2005) 6.97
The genome of the model beetle and pest Tribolium castaneum. Nature (2008) 6.50
28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res (2007) 6.42
The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41
Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res (2005) 6.32
Genetics. No longer de-identified. Science (2006) 6.20
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science (2010) 5.56
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
A SNP discovery method to assess variant allele probability from next-generation resequencing data. Genome Res (2009) 4.78
Gene expression analysis using oligonucleotide arrays produced by maskless photolithography. Genome Res (2002) 4.69
Clan genomics and the complex architecture of human disease. Cell (2011) 4.53
Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51
Comparative genome sequencing of Escherichia coli allows observation of bacterial evolution on a laboratory timescale. Nat Genet (2006) 4.44
Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun (2010) 4.39
Landscape of somatic retrotransposition in human cancers. Science (2012) 4.37
Whole exome capture in solution with 3 Gbp of data. Genome Biol (2010) 4.23
Serum DKK1 as a protein biomarker for the diagnosis of hepatocellular carcinoma: a large-scale, multicentre study. Lancet Oncol (2012) 4.21
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Probable limited person-to-person transmission of highly pathogenic avian influenza A (H5N1) virus in China. Lancet (2008) 4.17