Published in Nature on August 08, 2013
Cancer. TERT promoter mutations and telomerase reactivation in urothelial cancer. Science (2015) 2.37
Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. Nat Biotechnol (2013) 2.05
Regulatory evolution of innate immunity through co-option of endogenous retroviruses. Science (2016) 1.83
Biospecimen policy: Family matters. Nature (2013) 1.72
Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements. Genes Dev (2013) 1.61
Genome Analysis of Latin American Cervical Cancer: Frequent Activation of the PIK3CA Pathway. Clin Cancer Res (2015) 1.53
Do you know the sex of your cells? Am J Physiol Cell Physiol (2013) 1.49
Genome-wide analysis of HPV integration in human cancers reveals recurrent, focal genomic instability. Genome Res (2013) 1.47
DECKO: Single-oligo, dual-CRISPR deletion of genomic elements including long non-coding RNAs. BMC Genomics (2015) 1.45
A Network of Conserved Synthetic Lethal Interactions for Exploration of Precision Cancer Therapy. Mol Cell (2016) 1.45
A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability. Cell (2017) 1.44
Clinical drug response can be predicted using baseline gene expression levels and in vitro drug sensitivity in cell lines. Genome Biol (2014) 1.43
Cancer evolution: mathematical models and computational inference. Syst Biol (2014) 1.36
Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing. Nat Genet (2014) 1.28
Representing life as opposed to being: the bio-objectification process of the HeLa cells and its relation to personalized medicine. Croat Med J (2013) 1.27
Massively multiplex single-cell Hi-C. Nat Methods (2017) 1.25
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing. Nat Biotechnol (2016) 1.25
Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations. Nat Commun (2014) 1.15
HeLa nucleic acid contamination in the cancer genome atlas leads to the misidentification of human papillomavirus 18. J Virol (2015) 1.02
Comprehensive high-throughput RNA sequencing analysis reveals contamination of multiple nasopharyngeal carcinoma cell lines with HeLa cell genomes. J Virol (2014) 1.02
In vitro, long-range sequence information for de novo genome assembly via transposase contiguity. Genome Res (2014) 1.01
Lysosomal recruitment of TSC2 is a universal response to cellular stress. Nat Commun (2016) 1.00
De novo assembly of a haplotype-resolved human genome. Nat Biotechnol (2015) 0.98
The Henrietta Lacks legacy grows. EMBO Rep (2013) 0.96
Adeno-associated virus type 2 wild-type and vector-mediated genomic integration profiles of human diploid fibroblasts analyzed by third-generation PacBio DNA sequencing. J Virol (2014) 0.92
Identification of High-Impact cis-Regulatory Mutations Using Transcription Factor Specific Random Forest Models. PLoS Comput Biol (2015) 0.90
Kinesin-5 inhibitor resistance is driven by kinesin-12. J Cell Biol (2016) 0.89
Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease. BMC Genomics (2014) 0.88
Building trust in 21st century genomics. G3 (Bethesda) (2013) 0.88
A clathrin coat assembly role for the muniscin protein central linker revealed by TALEN-mediated gene editing. Elife (2014) 0.87
Does family always matter? Public genomes and their effect on relatives. Genome Med (2013) 0.86
TALEN-mediated Nanog disruption results in less invasiveness, more chemosensitivity and reversal of EMT in Hela cells. Oncotarget (2014) 0.86
Mutated tumor alleles are expressed according to their DNA frequency. Sci Rep (2014) 0.85
Comprehensive mapping of the human papillomavirus (HPV) DNA integration sites in cervical carcinomas by HPV capture technology. Oncotarget (2016) 0.85
Gene Insertion Into Genomic Safe Harbors for Human Gene Therapy. Mol Ther (2016) 0.84
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet (2014) 0.84
The genome of the chicken DT40 bursal lymphoma cell line. G3 (Bethesda) (2014) 0.84
Actin-dependent mitochondrial internalization in cardiomyocytes: evidence for rescue of mitochondrial function. Biol Open (2015) 0.84
Cytoplasmic long noncoding RNAs are frequently bound to and degraded at ribosomes in human cells. RNA (2016) 0.82
Co-infection of Epstein-Barr virus and human papillomavirus in human tumorigenesis. Chin J Cancer (2016) 0.81
Dysregulation of host cellular genes targeted by human papillomavirus (HPV) integration contributes to HPV-related cervical carcinogenesis. Int J Cancer (2015) 0.80
Establishment of HeLa cell mutants deficient in sphingolipid-related genes using TALENs. PLoS One (2014) 0.80
Allele-Specific Quantification of Structural Variations in Cancer Genomes. Cell Syst (2016) 0.79
Individual karyotypes at the origins of cervical carcinomas. Mol Cytogenet (2013) 0.79
Human papillomavirus induced transformation in cervical and head and neck cancers. Cancers (Basel) (2014) 0.79
CCCTC-binding factor recruitment to the early region of the human papillomavirus 18 genome regulates viral oncogene expression. J Virol (2015) 0.79
Personal genomic information management and personalized medicine: challenges, current solutions, and roles of HIM professionals. Perspect Health Inf Manag (2014) 0.79
Full-length single-cell RNA-seq applied to a viral human cancer: applications to HPV expression and splicing analysis in HeLa S3 cells. Gigascience (2015) 0.79
Disruption of microRNA-21 by TALEN leads to diminished cell transformation and increased expression of cell-environment interaction genes. Cancer Lett (2014) 0.78
Lactobacilli Differentially Modulate mTOR and Wnt/ β-Catenin Pathways in Different Cancer Cell Lines. Iran J Cancer Prev (2016) 0.78
Macrotene chromosomes provide insights to a new mechanism of high-order gene amplification in eukaryotes. Nat Commun (2015) 0.77
c-Myc deregulation induces mRNA capping enzyme dependency. Oncotarget (2016) 0.77
WinHAP2: an extremely fast haplotype phasing program for long genotype sequences. BMC Bioinformatics (2014) 0.77
DNA methylation at hepatitis B viral integrants is associated with methylation at flanking human genomic sequences. Genome Res (2015) 0.77
High variability of genomic instability and gene expression profiling in different HeLa clones. Sci Rep (2015) 0.77
In vitro assessment of a computer-designed potential anticancer agent in cervical cancer cells. Biol Res (2016) 0.76
Evaluating the impact of single nucleotide variants on transcription factor binding. Nucleic Acids Res (2016) 0.76
Enhancer deregulation in cancer and other diseases. Bioessays (2016) 0.76
Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11. Chromosoma (2015) 0.76
Recurrent somatic loss of TNFRSF14 in classical Hodgkin lymphoma. Genes Chromosomes Cancer (2015) 0.76
Gene Expression Correlates with the Number of Herpes Viral Genomes Initiating Infection in Single Cells. PLoS Pathog (2016) 0.75
Flagellar Cap Protein FliD Mediates Adherence of Atypical Enteropathogenic Escherichia coli to Enterocyte Microvilli. Infect Immun (2016) 0.75
Ribose 5-phosphate isomerase inhibits LC3 processing and basal autophagy. Cell Signal (2016) 0.75
Matrix and backstage: cellular substrates for viral vaccines. Viruses (2014) 0.75
Progress in genomics according to bingo: 2013 edition. Genome Biol (2013) 0.75
Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells. Nucleic Acids Res (2016) 0.75
Universal Human Papillomavirus Typing Assay: Whole Genome Sequencing Following Target Enrichment. J Clin Microbiol (2016) 0.75
Whole-Genome Sequence of the Metastatic PC3 and LNCaP Human Prostate Cancer Cell Lines. G3 (Bethesda) (2017) 0.75
A new oxygen modification cyclooctaoxygen binds to nucleic acids as sodium crown complex. Biochim Biophys Acta (2016) 0.75
Reduction in the copy number and expression level of the recurrent human papillomavirus integration gene fragile histidine triad (FHIT) predicts the transition of cervical lesions. PLoS One (2017) 0.75
PRC1-labeled microtubule bundles and kinetochore pairs show one-to-one association in metaphase. EMBO Rep (2016) 0.75
Mate-Pair Sequencing as a Powerful Clinical Tool for the Characterization of Cancers with a DNA Viral Etiology. Viruses (2015) 0.75
Recent Advances in Experimental Whole Genome Haplotyping Methods. Int J Mol Sci (2017) 0.75
Long-distance interaction of the integrated HPV fragment with MYC gene and 8q24.22 region up-regulating the allele-specific MYC expression in HeLa cells. Int J Cancer (2017) 0.75
Haplotype phasing of whole human genomes using bead-based barcode partitioning in a single tube. Nat Biotechnol (2017) 0.75
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc (2009) 137.99
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
TopHat: discovering splice junctions with RNA-Seq. Bioinformatics (2009) 81.13
An integrated encyclopedia of DNA elements in the human genome. Nature (2012) 64.73
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
High-quality draft assemblies of mammalian genomes from massively parallel sequence data. Proc Natl Acad Sci U S A (2010) 22.97
Comprehensive genomic characterization of squamous cell lung cancers. Nature (2012) 18.90
The life history of 21 breast cancers. Cell (2012) 10.59
A RAPID METHOD FOR VIABLE CELL TITRATION AND CLONE PRODUCTION WITH HELA CELLS IN TISSUE CULTURE: THE USE OF X-IRRADIATED CELLS TO SUPPLY CONDITIONING FACTORS. Proc Natl Acad Sci U S A (1955) 10.53
Profiling the HeLa S3 transcriptome using randomly primed cDNA and massively parallel short-read sequencing. Biotechniques (2008) 10.02
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation. Cell (2012) 8.41
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics (2011) 8.19
Identification of novel transcripts in annotated genomes using RNA-Seq. Bioinformatics (2011) 8.05
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Whole-genome molecular haplotyping of single cells. Nat Biotechnol (2010) 6.77
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol (2010) 6.07
Deep proteome and transcriptome mapping of a human cancer cell line. Mol Syst Biol (2011) 5.48
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
mrsFAST: a cache-oblivious algorithm for short-read mapping. Nat Methods (2010) 4.38
8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC. Proc Natl Acad Sci U S A (2010) 3.37
Comprehensive and definitive molecular cytogenetic characterization of HeLa cells by spectral karyotyping. Cancer Res (1999) 3.06
Cross-contamination of cells in culture. Science (1981) 2.53
Systematic review of genomic integration sites of human papillomavirus genomes in epithelial dysplasia and invasive cancer of the female lower genital tract. Cancer Res (2004) 2.24
Somatic LKB1 mutations promote cervical cancer progression. PLoS One (2009) 2.21
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet (2011) 2.12
lobSTR: A short tandem repeat profiler for personal genomes. Genome Res (2012) 2.08
Specific down-modulation of Notch1 signaling in cervical cancer cells is required for sustained HPV-E6/E7 expression and late steps of malignant transformation. Genes Dev (2002) 1.97
Apparent Hela cell contamination of human heteroploid cell lines. Nature (1968) 1.94
Rapid induction of senescence in human cervical carcinoma cells. Proc Natl Acad Sci U S A (2000) 1.93
Deletions of chromosome 3p are frequent and early events in the pathogenesis of uterine cervical carcinoma. Cancer Res (1997) 1.41
MYC activation associated with the integration of HPV DNA at the MYC locus in genital tumors. Oncogene (2006) 1.31
Comprehensive analysis of host cellular interactions with human papillomavirus E6 proteins identifies new E6 binding partners and reflects viral diversity. J Virol (2012) 1.28
Genome-wide allelic state analysis on flow-sorted tumor fractions provides an accurate measure of chromosomal aberrations. Cancer Res (2008) 1.23
An enhanceosome containing the Jun B/Fra-2 heterodimer and the HMG-I(Y) architectural protein controls HPV 18 transcription. EMBO Rep (2000) 1.02
Clinical and biological characteristics of cervical neoplasias with FGFR3 mutation. Mol Cancer (2005) 1.02
Amplification of the integrated viral transforming genes of human papillomavirus 18 and its 5'-flanking cellular sequence located near the myc protooncogene in HeLa cells. Cancer Res (1989) 0.92
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
High-quality draft assemblies of mammalian genomes from massively parallel sequence data. Proc Natl Acad Sci U S A (2010) 22.97
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
A three-dimensional model of the yeast genome. Nature (2010) 7.01
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol (2010) 6.07
Detection of ultra-rare mutations by next-generation sequencing. Proc Natl Acad Sci U S A (2012) 5.53
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol (2012) 4.51
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
The beginning of the end for microarrays? Nat Methods (2008) 4.19
Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience (2013) 4.11
Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med (2012) 3.94
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64
High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis. Nat Biotechnol (2009) 3.58
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A (2011) 3.54
Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med (2015) 3.30
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Parallel, tag-directed assembly of locally derived short sequence reads. Nat Methods (2010) 3.05
Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses. Cell (2012) 2.94
Global survey of escape from X inactivation by RNA-sequencing in mouse. Genome Res (2010) 2.87
Digital genotyping and haplotyping with polymerase colonies. Proc Natl Acad Sci U S A (2003) 2.77
Fluorescent in situ sequencing on polymerase colonies. Anal Biochem (2003) 2.70
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nat Genet (2013) 2.59
Transcriptome-wide miR-155 binding map reveals widespread noncanonical microRNA targeting. Mol Cell (2012) 2.54
Identification of foreign gene sequences by transcript filtering against the human genome. Nat Genet (2002) 2.52
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
Estimating the human mutation rate using autozygosity in a founder population. Nat Genet (2012) 2.44
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res (2013) 2.29
The million mutation project: a new approach to genetics in Caenorhabditis elegans. Genome Res (2013) 2.20
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet (2010) 2.19
Genome-scale identification of resistance functions in Pseudomonas aeruginosa using Tn-seq. MBio (2011) 2.13
A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell (2007) 2.12
Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster. Nat Genet (2011) 2.07
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. Nat Biotechnol (2013) 2.05
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res (2011) 1.93
Methods for genomic partitioning. Annu Rev Genomics Hum Genet (2009) 1.93
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Long-range polony haplotyping of individual human chromosome molecules. Nat Genet (2006) 1.69
Mutation discovery in mice by whole exome sequencing. Genome Biol (2011) 1.69
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Ancient haplotypes of the HLA Class II region. Genome Res (2005) 1.62
Mammalian X upregulation is associated with enhanced transcription initiation, RNA half-life, and MOF-mediated H4K16 acetylation. Dev Cell (2013) 1.61
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.53
Discovering functional transcription-factor combinations in the human cell cycle. Genome Res (2005) 1.53
Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet (2015) 1.51
Ultra-low-input, tagmentation-based whole-genome bisulfite sequencing. Genome Res (2012) 1.50
Single molecule profiling of alternative pre-mRNA splicing. Science (2003) 1.48
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Res (2011) 1.47