Found: 127
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A Distributed Whole Genome Sequencing Benchmark Study.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.612515
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- Publication type:
- Article
MACHINE LEARNING IN PATHOLOGY: A PRIMER ON TECHNIQUES AND APPLICATIONS.
- Published in:
- Canadian Journal of Pathology, 2018, v. 10, n. 3, p. 51
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- Publication type:
- Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-15
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- Publication type:
- Article
Population sequencing reveals clonal diversity and ancestral inbreeding in the grapevine cultivar Chardonnay.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007807
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- Publication type:
- Article
Genome Destabilizing Mutator Alleles Drive Specific Mutational Trajectories in Saccharomyces cerevisiae.
- Published in:
- Genetics, 2014, v. 196, n. 2, p. 403, doi. 10.1534/genetics.113.159806
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- Publication type:
- Article
Allelic Ratios and the Mutational Landscape Reveal Biologically Significant Heterozygous SNVs.
- Published in:
- Genetics, 2012, v. 190, n. 4, p. 1225, doi. 10.1534/genetics.111.137208
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- Publication type:
- Article
A novel mutation in EED associated with overgrowth.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 6, p. 339, doi. 10.1038/jhg.2015.26
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- Publication type:
- Article
ORegAnno 3.0: a community-driven resource for curated regulatory annotation.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 1, p. D126, doi. 10.1093/nar/gkv1203
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- Publication type:
- Article
Conserved elements associated with ribosomal genes and their trans-splice acceptor sites in Caenorhabditis elegans.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 9, p. 2990, doi. 10.1093/nar/gkq003
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- Publication type:
- Article
Caenorhabditis elegans cisRED: a catalogue of conserved genomic elements.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 4, p. 1323, doi. 10.1093/nar/gkn1041
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- Publication type:
- Article
A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22625-y
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- Publication type:
- Article
Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1589, doi. 10.1002/ajmg.a.62676
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- Publication type:
- Article
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 926, doi. 10.1002/ajmg.a.62578
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- Publication type:
- Article
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2541, doi. 10.1002/ajmg.a.62349
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- Publication type:
- Article
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3087, doi. 10.1002/ajmg.a.38400
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- Publication type:
- Article
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2360, doi. 10.1002/ajmg.a.36622
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- Publication type:
- Article
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
- Published in:
- Nature Genetics, 2014, v. 46, n. 11, p. 1245, doi. 10.1038/ng.3113
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- Publication type:
- Article
The Cancer Genome Atlas Pan-Cancer analysis project.
- Published in:
- Nature Genetics, 2013, v. 45, n. 10, p. 1113, doi. 10.1038/ng.2764
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- Publication type:
- Article
HoxA13 Regulates Phenotype Regionalization of Human Pregnant Myometrium.
- Published in:
- 2015
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- Publication type:
- journal article
MEN1 mutations in Hürthle cell (oncocytic) thyroid carcinoma.
- Published in:
- 2015
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- Publication type:
- journal article
ALEXA: a microarray design platform for alternative expression analysis.
- Published in:
- 2008
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- Publication type:
- Letter
An application of peer-to-peer technology to the discovery, use and assessment of bioinformatics programs.
- Published in:
- 2005
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- Publication type:
- Letter
A systematic screen for genes expressed in definitive endoderm by Serial Analysis of Gene Expression (SAGE).
- Published in:
- BMC Developmental Biology, 2007, v. 7, p. 92, doi. 10.1186/1471-213X-7-92
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- Publication type:
- Article
Patient selection for a developmental therapeutics program using whole genome and Transcriptome analysis.
- Published in:
- Investigational New Drugs, 2020, v. 38, n. 5, p. 1601, doi. 10.1007/s10637-020-00892-8
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- Publication type:
- Article
Diagnostic and Therapeutic Implications of a FUS::TFCP2 Fusion and ALK Activation in a Metastatic Rhabdomyosarcoma.
- Published in:
- Genes, Chromosomes & Cancer, 2024, v. 63, n. 9, p. 1, doi. 10.1002/gcc.23259
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- Publication type:
- Article
A somatic reference standard for cancer genome sequencing.
- Published in:
- Scientific Reports, 2016, p. 24607, doi. 10.1038/srep24607
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- Publication type:
- Article
Iron-regulated transcription and capsule formation in the fungal pathogenCryptococcus neoformans.
- Published in:
- Molecular Microbiology, 2005, v. 55, n. 5, p. 1452, doi. 10.1111/j.1365-2958.2004.04474.x
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- Publication type:
- Article
Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02283-5
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- Publication type:
- Article
Personalized Oncogenomics: Clinical Experience with Malignant Peritoneal Mesothelioma Using Whole Genome Sequencing.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119689
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- Publication type:
- Article
JAGuaR: Junction Alignments to Genome for RNA-Seq Reads.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102398
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- Publication type:
- Article
Twist1 Transcriptional Targets in the Developing Atrio-Ventricular Canal of the Mouse.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040815
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- Publication type:
- Article
A Comparison of Parallel Pyrosequencing and Sanger Clone-Based Sequencing and Its Impact on the Characterization of the Genetic Diversity of HIV-1.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026745
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- Publication type:
- Article
Molecular Decoy to the Y-Box Binding Protein-1 Suppresses the Growth of Breast and Prostate Cancer Cells whilst Sparing Normal Cell Viability.
- Published in:
- PLoS ONE, 2010, v. 5, n. 9, p. 1, doi. 10.1371/journal.pone.0012661
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- Publication type:
- Article
TMBur: a distributable tumor mutation burden approach for whole genome sequencing.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01348-z
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- Publication type:
- Article
Transcriptome resources and functional characterization of monoterpene synthases for two host species of the mountain pine beetle, lodgepole pine (Pinus contorta) and jack pine (Pinus banksiana).
- Published in:
- BMC Plant Biology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2229-13-80
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- Publication type:
- Article
Genome- wide detection of imprinted differentially methylated regions using nanopore sequencing.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.77898
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- Publication type:
- Article
Author Correction: MEG3 long noncoding RNA regulates the TGF-β pathway genes through formation of RNA–DNA triplex structures.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Improved measures for evolutionary conservation that exploit taxonomy distances.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09583-2
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- Publication type:
- Article
The pink salmon genome: Uncovering the genomic consequences of a two-year life cycle.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0255752
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- Publication type:
- Article
complete mitochondrial genome of the spot prawn, Pandalus platyceros Brandt in von Middendorf, 1851 (Decapoda: Caridea: Pandalidae), assembled from linked-reads sequencing.
- Published in:
- Journal of Crustacean Biology, 2022, v. 42, n. 1, p. 1, doi. 10.1093/jcbiol/ruac003
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- Publication type:
- Article
Identification of novel androgen-responsive genes by sequencing of LongSAGE libraries.
- Published in:
- BMC Genomics, 2009, v. 10, p. 476, doi. 10.1186/1471-2164-10-476
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- Publication type:
- Article
Analysis of 4,664 high-quality sequence-finished poplar full-length cDNA clones and their utility for the discovery of genes responding to insect feeding.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-57
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- Publication type:
- Article
VisRseq: R-based visual framework for analysis of sequencing data.
- Published in:
- BMC Bioinformatics, 2015, v. 16, p. 1, doi. 10.1186/1471-2105-16-S11-S2
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- Publication type:
- Article
Identifying cancer mutation targets across thousands of samples: MuteProc, a high throughput mutation analysis pipeline.
- Published in:
- BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-167
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- Publication type:
- Article
Structural characterization of genomes by large scale sequence-structure threading: application of reliability analysis in structural genomics.
- Published in:
- BMC Bioinformatics, 2004, v. 5, p. 101, doi. 10.1186/1471-2105-5-101
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- Publication type:
- Article
An approach to large scale identification of non-obvious structural similarities between proteins.
- Published in:
- BMC Bioinformatics, 2004, v. 5, p. 61, doi. 10.1186/1471-2105-5-61
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- Publication type:
- Article
Structural characterization of genomes by large scale sequence-structure threading.
- Published in:
- BMC Bioinformatics, 2004, v. 5, p. 37, doi. 10.1186/1471-2105-5-37
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- Publication type:
- Article
A knowledge discovery object model API for Java.
- Published in:
- 2003
- By:
- Publication type:
- Product Review
Automated Library Construction and Analysis for High-Throughput Nanopore Sequencing of SARS-CoV-2<sup> </sup>.
- Published in:
- Journal of Applied Laboratory Medicine, 2022, v. 7, n. 5, p. 1025, doi. 10.1093/jalm/jfac054
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- Publication type:
- Article
Clinical and cost outcomes following genomics‐informed treatment for advanced cancers.
- Published in:
- Cancer Medicine, 2021, v. 10, n. 15, p. 5131, doi. 10.1002/cam4.4076
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- Publication type:
- Article