Published in Nature on February 10, 2011
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JAK and STAT signaling molecules in immunoregulation and immune-mediated disease. Immunity (2012) 2.85
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A method for calculating probabilities of fitness consequences for point mutations across the human genome. Nat Genet (2015) 1.27
Separating the wheat from the chaff: mitigating the effects of noise in a plastome phylogenomic data set from Pinus L. (Pinaceae). BMC Evol Biol (2012) 1.23
ProteinSeq: high-performance proteomic analyses by proximity ligation and next generation sequencing. PLoS One (2011) 1.21
Evolving approaches to the ethical management of genomic data. Trends Genet (2013) 1.18
A high-throughput approach to identify genomic variants of bacterial metabolite producers at the single-cell level. Genome Biol (2012) 1.18
Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol (2012) 1.17
Clinical actionability enhanced through deep targeted sequencing of solid tumors. Clin Chem (2015) 1.16
Omics Pipe: a community-based framework for reproducible multi-omics data analysis. Bioinformatics (2015) 1.13
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Functional impact of NOTCH1 mutations in chronic lymphocytic leukemia. Leukemia (2013) 1.08
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ROS-activated anticancer prodrugs: a new strategy for tumor-specific damage. Ther Deliv (2012) 1.02
ITEP: an integrated toolkit for exploration of microbial pan-genomes. BMC Genomics (2014) 1.02
An emerging place for lung cancer genomics in 2013. J Thorac Dis (2013) 1.02
Identifying molecular drivers of gastric cancer through next-generation sequencing. Cancer Lett (2012) 1.01
Genomics in 2012: challenges and opportunities in the next generation sequencing era. BMC Genomics (2012) 1.01
The Global Invertebrate Genomics Alliance (GIGA): developing community resources to study diverse invertebrate genomes. J Hered (2013) 1.00
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Genome-wide SNP and microsatellite variation illuminate population-level epidemiology in the Leishmania donovani species complex. Infect Genet Evol (2011) 0.98
Personal genomes, quantitative dynamic omics and personalized medicine. Quant Biol (2013) 0.98
Clarity: an open-source manager for laboratory automation. J Lab Autom (2012) 0.98
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Genome reannotation of the lizard Anolis carolinensis based on 14 adult and embryonic deep transcriptomes. BMC Genomics (2013) 0.97
The Children's Oncology Group's 2013 five year blueprint for research. Pediatr Blood Cancer (2012) 0.97
Translating cancer genomes and transcriptomes for precision oncology. CA Cancer J Clin (2015) 0.97
Nucleic acid-based approaches to investigate microbial-related cheese quality defects. Front Microbiol (2013) 0.97
Review of massively parallel DNA sequencing technologies. Hugo J (2011) 0.96
Genomic Characterization of Non-Small-Cell Lung Cancer in African Americans by Targeted Massively Parallel Sequencing. J Clin Oncol (2015) 0.96
Use of blood-based biomarkers for early diagnosis and surveillance of colorectal cancer. World J Gastrointest Oncol (2014) 0.96
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
Genomic profiling of B-progenitor acute lymphoblastic leukemia. Best Pract Res Clin Haematol (2011) 0.95
Extracting research-quality phenotypes from electronic health records to support precision medicine. Genome Med (2015) 0.95
High-density linkage mapping in a pine tree reveals a genomic region associated with inbreeding depression and provides clues to the extent and distribution of meiotic recombination. BMC Biol (2013) 0.94
Long-range transcriptome sequencing reveals cancer cell growth regulatory chimeric mRNA. Neoplasia (2012) 0.94
Perspectives of integrative cancer genomics in next generation sequencing era. Genomics Inform (2012) 0.94
Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy. Appl Clin Genet (2014) 0.94
EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics. BMC Bioinformatics (2012) 0.92
An overview of malaria transmission from the perspective of Amazon Anopheles vectors. Mem Inst Oswaldo Cruz (2015) 0.92
Phylogenomic resolution of paleozoic divergences in harvestmen (Arachnida, Opiliones) via analysis of next-generation transcriptome data. PLoS One (2012) 0.91
Genomics: the breast cancer landscape. Nature (2012) 0.91
Bias from removing read duplication in ultra-deep sequencing experiments. Bioinformatics (2014) 0.90
Cross-species protein sequence and gene structure prediction with fine-tuned Webscipio 2.0 and Scipio. BMC Res Notes (2011) 0.90
Controversies in modern evolutionary biology: the imperative for error detection and quality control. BMC Genomics (2012) 0.90
Electrochemical tunnelling sensors and their potential applications. Nat Commun (2012) 0.89
Applications of next-generation sequencing to blood and marrow transplantation. Biol Blood Marrow Transplant (2012) 0.89
Mutation spectrum of Drosophila CNVs revealed by breakpoint sequencing. Genome Biol (2012) 0.88
Phylogenomics meets neuroscience: how many times might complex brains have evolved? Acta Biol Hung (2012) 0.88
Identification of structural variation in mouse genomes. Front Genet (2014) 0.88
The genome sequence of the fungal pathogen Fusarium virguliforme that causes sudden death syndrome in soybean. PLoS One (2014) 0.88
Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings. Genet Test Mol Biomarkers (2015) 0.88
High-Performance Integrated Virtual Environment (HIVE) Tools and Applications for Big Data Analysis. Genes (Basel) (2014) 0.87
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. J Med Genet (2013) 0.87
Microbial diversity in the era of omic technologies. Biomed Res Int (2013) 0.87
Whole exome sequencing (WES) on formalin-fixed, paraffin-embedded (FFPE) tumor tissue in gastrointestinal stromal tumors (GIST). BMC Genomics (2015) 0.85
Gene expression in the Parkinson's disease brain. Brain Res Bull (2011) 0.85
Decoding DNA, RNA and peptides with quantum tunnelling. Nat Nanotechnol (2016) 0.85
Selection of DNA aptamers for ovarian cancer biomarker HE4 using CE-SELEX and high-throughput sequencing. Anal Bioanal Chem (2015) 0.85
Characterization, correction and de novo assembly of an Oxford Nanopore genomic dataset from Agrobacterium tumefaciens. Sci Rep (2016) 0.85
Comprehensive genomic studies: emerging regulatory, strategic, and quality assurance challenges for biorepositories. Am J Clin Pathol (2012) 0.84
Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing. PLoS Genet (2014) 0.84
Landscape of gene fusions in epithelial cancers: seq and ye shall find. Genome Med (2015) 0.84
Next-generation sequencing in understanding complex neurological disease. Expert Rev Neurother (2013) 0.84
Parallel tagged amplicon sequencing of transcriptome-based genetic markers for Triturus newts with the Ion Torrent next-generation sequencing platform. Mol Ecol Resour (2014) 0.84
Simultaneous Quantification of Viral Antigen Expression Kinetics Using Data-Independent (DIA) Mass Spectrometry. Mol Cell Proteomics (2015) 0.84
Simulation-guided DNA probe design for consistently ultraspecific hybridization. Nat Chem (2015) 0.84
Genomics of acute myeloid leukemia. Cancer J (2011) 0.84
Genomics in mammalian cell culture bioprocessing. Biotechnol Adv (2011) 0.84
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling. Mol Cell Endocrinol (2014) 0.83
Analysis of gene-gene interactions. Curr Protoc Hum Genet (2011) 0.83
Are results of targeted gene sequencing ready to be used for clinical decision making for patients with acute myelogenous leukemia? Curr Hematol Malig Rep (2013) 0.83
Implementing a genomic data management system using iRODS in the Wellcome Trust Sanger Institute. BMC Bioinformatics (2011) 0.83
Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health. Clin Epigenetics (2015) 0.83
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis. Genet Med (2015) 0.82
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A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A haplotype map of the human genome. Nature (2005) 105.70
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 International HapMap Project. Nature (2003) 73.65
The consensus coding sequences of human breast and colorectal cancers. Science (2006) 60.02
Global variation in copy number in the human genome. Nature (2006) 57.50
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Finishing the euchromatic sequence of the human genome. Nature (2004) 41.40
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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
The genomic landscapes of human breast and colorectal cancers. Science (2007) 38.12
EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Sci U S A (2004) 33.85
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
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Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
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Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature (2004) 21.40
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods (2009) 18.41
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
The origin of the Haitian cholera outbreak strain. N Engl J Med (2010) 9.85
Charting a course for genomic medicine from base pairs to bedside. Nature (2011) 9.39
Initial impact of the sequencing of the human genome. Nature (2011) 9.18
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
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
Genome analysis of the platypus reveals unique signatures of evolution. Nature (2008) 5.74
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
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Cancer genomics identifies determinants of tumor biology. Genome Biol (2010) 1.47
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Quaranfil, Johnston Atoll, and Lake Chad viruses are novel members of the family Orthomyxoviridae. J Virol (2009) 1.40
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Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level. Genome Biol (2010) 1.12