327 Matching Annotations
  1. Jul 2021
  2. www.sciencedirect.com www.sciencedirect.com
    ORY-1001, a Potent and Selective Covalent KDM1A Inhibitor, for the Treatment of Acute Leukemia
    1
    1. scibot 27 Jul 2021
      Genome Analysis Toolkit

      DOI: 10.1016/j.ccell.2018.02.002

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    sciencedirect.com/science/article/pii/S1535610818300230
  3. academic.oup.com academic.oup.com
    Chromosomal-level assembly of yellow catfish genome using third-generation DNA sequencing and Hi-C analysis
    1
    1. scibot 27 Jul 2021
      RRID:SCR_001876

      DOI: 10.1093/gigascience/giy120

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    academic.oup.com/gigascience/article/7/11/giy120/5106933
  4. Jun 2021
  5. elifesciences.org elifesciences.org
    SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients
    1
    1. scibot 11 Jun 2021
      RRID:SCR_001876

      DOI: 10.7554/eLife.67481

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    elifesciences.org/articles/67481
  6. May 2021
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Integrated sensing of host stresses by inhibition of a cytoplasmic two-component system controls M. tuberculosis acute lung infection
    1
    1. scibot 21 May 2021
      RRID:SCR_001876

      DOI: 10.7554/eLife.65351

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    ncbi.nlm.nih.gov/pmc/articles/PMC8131098/
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Morphological and genomic shifts in mole-rat ‘queens’ increase fecundity but reduce skeletal integrity
    1
    1. scibot 13 May 2021
      RRID:SCR_001876

      DOI: 10.7554/eLife.65760

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    ncbi.nlm.nih.gov/pmc/articles/PMC8104968/
  9. clincancerres.aacrjournals.org clincancerres.aacrjournals.org
    Alterations in BAP1 are Associated with Cisplatin Resistance Through Inhibition of Apoptosis in Malignant Pleural Mesothelioma (MPM).
    1
    1. scibot 10 May 2021
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      DOI: 10.1158/1078-0432.CCR-20-4037

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    clincancerres.aacrjournals.org/content/27/8/2277
  10. cancerres.aacrjournals.org cancerres.aacrjournals.org
    Bladder tumor subtype commitment occurs in carcinoma in-situ driven by key signaling pathways including ECM remodeling
    1
    1. scibot 10 May 2021
      RRID:SCR_001876

      DOI: 10.1158/0008-5472.CAN-20-2336

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    cancerres.aacrjournals.org/content/81/6/1552
  11. onlinelibrary.wiley.com onlinelibrary.wiley.com
    How to characterize a strain? Clonal heterogeneity in industrial Saccharomyces influences both phenotypes and heterogeneity in phenotypes
    1
    1. scibot 06 May 2021
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      DOI: 10.1002/yea.3562

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    onlinelibrary.wiley.com/doi/10.1002/yea.3562
  12. www.sciencedirect.com www.sciencedirect.com
    Whole-genome analysis of giraffe supports four distinct species
    1
    1. scibot 06 May 2021
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      DOI: 10.1016/j.cub.2021.04.033

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    sciencedirect.com/science/article/pii/S0960982221005467
  13. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Nested association mapping reveals the genetic architecture of spike emergence and anthesis timing in intermediate wheatgrass
    1
    1. scibot 01 May 2021
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      DOI: 10.1093/g3journal/jkab025

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    ncbi.nlm.nih.gov/pmc/articles/PMC8063084/
  14. Apr 2021
  15. academic.oup.com academic.oup.com
    Chromosome-level genome assembly of the hard-shelled mussel Mytilus coruscus, a widely distributed species from the temperate areas of East Asia
    1
    1. scibot 27 Apr 2021
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      DOI: 10.1093/gigascience/giab024

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    academic.oup.com/gigascience/article/10/4/giab024/6247647
  16. www.sciencedirect.com www.sciencedirect.com
    Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs
    1
    1. scibot 24 Apr 2021
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      DOI: 10.1016/j.cell.2020.08.006

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    sciencedirect.com/science/article/pii/S0092867420309971
  17. www.sciencedirect.com www.sciencedirect.com
    Integrated Omics of Metastatic Colorectal Cancer
    1
    1. scibot 22 Apr 2021
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      DOI: 10.1016/j.ccell.2020.08.002

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    sciencedirect.com/science/article/pii/S153561082030413X
  18. www.sciencedirect.com www.sciencedirect.com
    Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants
    1
    1. scibot 21 Apr 2021
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      DOI: 10.1016/j.xcrm.2021.100250

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    sciencedirect.com/science/article/pii/S2666379121000665
  19. www.sciencedirect.com www.sciencedirect.com
    Trans-ethnic variation in germline variants of patients with renal cell carcinoma
    1
    1. scibot 03 Apr 2021
      RRID:SCR_001876

      DOI: 10.1016/j.celrep.2021.108926

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    sciencedirect.com/science/article/pii/S2211124721002400
  20. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans
    1
    1. scibot 02 Apr 2021
      RRID:SCR_001876

      DOI: 10.7554/eLife.65420

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    ncbi.nlm.nih.gov/pmc/articles/PMC8009663/
  21. Mar 2021
  22. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
    1
    1. scibot 09 Mar 2021
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      DOI: 10.3389/fgene.2021.619950

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    ncbi.nlm.nih.gov/pmc/articles/PMC7930628/
  23. academic.oup.com academic.oup.com
    Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma
    1
    1. scibot 03 Mar 2021
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      DOI: 10.1093/hmg/ddaa268

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    academic.oup.com/hmg/article/29/22/3679/6035190
  24. Feb 2021
  25. www.sciencedirect.com www.sciencedirect.com
    Single-cell landscape of the ecosystem in early-relapse hepatocellular carcinoma
    1
    1. scibot 27 Feb 2021
      RRID:SCR_001876

      DOI: 10.1016/j.cell.2020.11.041

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    sciencedirect.com/science/article/pii/S0092867420316135
  26. www.cell.com www.cell.com
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
    1
    1. scibot 26 Feb 2021
      RRID:SCR_001876

      DOI: 10.1016/j.medj.2020.06.004

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    cell.com/med/fulltext/S2666-6340(20)30009-X
  27. academic.oup.com academic.oup.com
    Genomic diversity affects the accuracy of bacterial single-nucleotide polymorphism–calling pipelines
    1
    1. scibot 24 Feb 2021
      RRID:SCR_001876

      DOI: 10.1093/gigascience/giaa007

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    academic.oup.com/gigascience/article/9/2/giaa007/5728470
  28. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Quantitative Trait Locus Mapping and Identification of Candidate Genes Controlling Flowering Time in Brassica napus L.
    1
    1. scibot 24 Feb 2021
      RRID:SCR_001876

      DOI: 10.3389/fpls.2020.626205

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    ncbi.nlm.nih.gov/pmc/articles/PMC7886670/
  29. link.springer.com link.springer.com
    Outbreak of Central American born Shigella sonnei in two youth camps in Belgium in the summer of 2019
    1
    1. scibot 24 Feb 2021
      RRID:SCR_001876

      DOI: 10.1007/s10096-021-04164-y

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    link.springer.com/article/10.1007/s10096-021-04164-y
  30. elifesciences.org elifesciences.org
    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy
    1
    1. scibot 11 Feb 2021
      RRID:SCR_001876

      DOI: 10.7554/eLife.64434

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    elifesciences.org/articles/64434
  31. Dec 2020
  32. academic.oup.com academic.oup.com
    Comparison of the two up-to-date sequencing technologies for genome assembly: HiFi reads of Pacific Biosciences Sequel II system and ultralong reads of Oxford Nanopore
    1
    1. scibot 19 Dec 2020
      RRID:SCR_001876

      DOI: 10.1093/gigascience/giaa123

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    academic.oup.com/gigascience/article/9/12/giaa123/6034784
  33. academic.oup.com academic.oup.com
    Genome sequencing of deep-sea hydrothermal vent snails reveals adaptions to extreme environments
    1
    1. scibot 19 Dec 2020
      RRID:SCR_001876

      DOI: 10.1093/gigascience/giaa139

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    academic.oup.com/gigascience/article/9/12/giaa139/6034786
  34. academic.oup.com academic.oup.com
    Chromosomal genome of Triplophysa bleekeri provides insights into its evolution and environmental adaptation
    1
    1. scibot 07 Dec 2020
      RRID:SCR_001876

      DOI: 10.1093/gigascience/giaa132

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    academic.oup.com/gigascience/article/9/11/giaa132/5999722
  35. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Turnip mosaic virus in oilseed rape activates networks of sRNA-mediated interactions between viral and host genomes
    1
    1. scibot 07 Dec 2020
      RRID:SCR_001876

      DOI: 10.1038/s42003-020-01425-y

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    pubmed.ncbi.nlm.nih.gov/33230160/
  36. Nov 2020
  37. www.sciencedirect.com www.sciencedirect.com
    Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans
    1
    1. scibot 07 Nov 2020
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      DOI: 10.1016/j.molcel.2020.10.012

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    sciencedirect.com/science/article/pii/S109727652030719X
  38. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A molecular map of lung neuroendocrine neoplasms
    1
    1. scibot 03 Nov 2020
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      DOI: 10.1093/gigascience/giaa112

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    pubmed.ncbi.nlm.nih.gov/33124659/
  39. Oct 2020
  40. academic.oup.com academic.oup.com
    DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age
    1
    1. scibot 29 Oct 2020
      RRID:SCR_001876

      DOI: 10.1210/clinem/dgaa465

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    academic.oup.com/jcem/article/105/12/dgaa465/5873625
  41. www.cell.com www.cell.com
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
    1
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      DOI: 10.1016/j.medj.2020.06.004

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    cell.com/med/fulltext/S2666-6340(20)30009-X
  42. Sep 2020
  43. academic.oup.com academic.oup.com
    Genomic analyses reveal distinct genetic architectures and selective pressures in buffaloes
    1
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      DOI: 10.1093/gigascience/giz166

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    academic.oup.com/gigascience/article/9/2/giz166/5743106
  44. elifesciences.org elifesciences.org
    Temporal network analysis identifies early physiological and transcriptomic indicators of mild drought in Brassica rapa
    1
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      DOI: 10.7554/eLife.29655

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    elifesciences.org/articles/29655
  45. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of scavenger receptor B1 as the airway microfold cell receptor for Mycobacterium tuberculosis
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      DOI: 10.7554/eLife.52551

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    ncbi.nlm.nih.gov/pmc/articles/PMC7065847/
  46. elifesciences.org elifesciences.org
    Aneuploidy as a cause of impaired chromatin silencing and mating-type specification in budding yeast
    1
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      DOI: 10.7554/eLife.27991

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    elifesciences.org/articles/27991
  47. www.sciencedirect.com www.sciencedirect.com
    Senescence-Induced Vascular Remodeling Creates Therapeutic Vulnerabilities in Pancreas Cancer
    1
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      DOI: 10.1016/j.cell.2020.03.008

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    sciencedirect.com/science/article/pii/S0092867420302701
  48. academic.oup.com academic.oup.com
    Introgression of Eastern Chinese and Southern Chinese haplotypes contributes to the improvement of fertility and immunity in European modern pigs
    1
    1. scibot 17 Sep 2020
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      DOI: 10.1093/gigascience/giaa014

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    academic.oup.com/gigascience/article/9/3/giaa014/5788434
  49. academic.oup.com academic.oup.com
    Genomic consequences of dietary diversification and parallel evolution due to nectarivory in leaf-nosed bats
    1
    1. scibot 17 Sep 2020
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      DOI: 10.1093/gigascience/giaa059

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    academic.oup.com/gigascience/article/9/6/giaa059/5854408
  50. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Global genome diversity of the Leishmania donovani complex
    2
    1. scibot 16 Sep 2020
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      DOI: 10.7554/eLife.51243

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    2. scibot 04 Sep 2020
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      DOI: 10.7554/eLife.51243

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    ncbi.nlm.nih.gov/pmc/articles/PMC7105377/
  51. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Expandable and reversible copy number amplification drives rapid adaptation to antifungal drugs
    1
    1. scibot 14 Sep 2020
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    Linking genetic, metabolic, and phenotypic diversity among Saccharomyces cerevisiae strains using multi-omics associations
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    The Polyploid State Plays a Tumor-Suppressive Role in the Liver
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    Genetic Modulation of RNA Splicing with a CRISPR-Guided Cytidine Deaminase
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    Proteomics, Post-translational Modifications, and Integrative Analyses Reveal Molecular Heterogeneity within Medulloblastoma Subgroups
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    Integrated Genomic Analysis of Hürthle Cell Cancer Reveals Oncogenic Drivers, Recurrent Mitochondrial Mutations, and Unique Chromosomal Landscapes
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    Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures
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    The Rise and Fall of African Rice Cultivation Revealed by Analysis of 246 New Genomes
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    Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification
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    Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia
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    Improved de novo genome assembly and analysis of the Chinese cucurbit Siraitia grosvenorii, also known as monk fruit or luo-han-guo
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  97. www.sciencedirect.com www.sciencedirect.com
    Bottlenose Dolphins Retain Individual Vocal Labels in Multi-level Alliances
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  98. academic.oup.com academic.oup.com
    Evidence of evolutionary history and selective sweeps in the genome of Meishan pig reveals its genetic and phenotypic characterization
    1
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  99. academic.oup.com academic.oup.com
    Population genomic data reveal genes related to important traits of quail
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    1. scibot 05 Nov 2018
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  100. www.sciencedirect.com www.sciencedirect.com
    Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
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  101. academic.oup.com academic.oup.com
    Whole-genome resequencing reveals signatures of selection and timing of duck domestication
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  102. academic.oup.com academic.oup.com
    Whole-genome sequences of 89 Chinese sheep suggest role of RXFP2 in the development of unique horn phenotype as response to semi-feralization
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    Chemoresistance Evolution in Triple-Negative Breast Cancer Delineated by Single-Cell Sequencing
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  104. academic.oup.com academic.oup.com
    Maser: one-stop platform for NGS big data from analysis to visualization
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  105. europepmc.org europepmc.org
    SOAPnuke: a MapReduce acceleration-supported software for integrated quality control and preprocessing of high-throughput sequencing data.
    1
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  106. europepmc.org europepmc.org
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  107. elifesciences.org elifesciences.org
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  108. elifesciences.org elifesciences.org
    Explosive mutation accumulation triggered by heterozygous human Pol ε proofreading-deficiency is driven by suppression of mismatch repair
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    1. scibot 05 Nov 2018
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  109. www.sciencedirect.com www.sciencedirect.com
    Genomic Analysis of Demographic History and Ecological Niche Modeling in the Endangered Sumatran Rhinoceros Dicerorhinus sumatrensis
    1
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  110. www.sciencedirect.com www.sciencedirect.com
    Multiclonal Invasion in Breast Tumors Identified by Topographic Single Cell Sequencing
    1
    1. scibot 05 Nov 2018
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  111. europepmc.org europepmc.org
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  112. academic.oup.com academic.oup.com
    Lightning-fast genome variant detection with GROM
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    Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma
    1
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  114. academic.oup.com academic.oup.com
    CNVcaller: highly efficient and widely applicable software for detecting copy number variations in large populations
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      RRID:SCR_001876

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  115. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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  116. www.sciencedirect.com www.sciencedirect.com
    The Stone Age Plague and Its Persistence in Eurasia
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  117. europepmc.org europepmc.org
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  118. europepmc.org europepmc.org
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  119. europepmc.org europepmc.org
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  120. Nov 2017
  121. academic.oup.com academic.oup.com
    Population-wide sampling of retrotransposon insertion polymorphisms using deep sequencing and efficient detection
    1
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  122. academic.oup.com academic.oup.com
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  123. elifesciences.org elifesciences.org
    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system
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  124. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Comparative performance of the BGISEQ-500 vs Illumina HiSeq2500 sequencing platforms for palaeogenomic sequencing
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  125. academic.oup.com academic.oup.com
    An expanded mammal mitogenome dataset from Southeast Asia
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  126. www.sciencedirect.com www.sciencedirect.com
    Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation
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  127. academic.oup.com academic.oup.com
    16GT: a fast and sensitive variant caller using a 16-genotype probabilistic model
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  128. www.sciencedirect.com www.sciencedirect.com
    The Discovery of Wild Date Palms in Oman Reveals a Complex Domestication History Involving Centers in the Middle East and Africa
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  129. www.sciencedirect.com www.sciencedirect.com
    Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells
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  130. www.cell.com www.cell.com
    Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder
    1
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      GATK (Genome Analysis Toolkit version 3.2-2)

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  131. www.sciencedirect.com www.sciencedirect.com
    Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder
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  132. www.sciencedirect.com www.sciencedirect.com
    Histone Acetylome-wide Association Study of Autism Spectrum Disorder
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  133. elifesciences.org elifesciences.org
    Epigenetic regulation of lateralized fetal spinal gene expression underlies hemispheric asymmetries
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    elifesciences.org/articles/22784
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    A Biobank of Breast Cancer Explants with Preserved Intra-tumor Heterogeneity to Screen Anticancer Compounds
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  135. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular portrait of maternal sepsis from Byzantine Troy
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  136. www.sciencedirect.com www.sciencedirect.com
    Domestication and Divergence of Saccharomyces cerevisiae Beer Yeasts
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  137. www.sciencedirect.com www.sciencedirect.com
    Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling
    1
    1. scibot 08 Nov 2017
      Genome Analysis Toolkit

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  138. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
    1
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      GATK (3.3)

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      (GATK, RRID:SCR_001876)

      SciCrunch record: RRID:SCR_001876

      Alternate resolvers: SciCrunch xml N2T identifiers.org

      What is this?

      RRID:SCR_001876 RRIDCUR:Missing
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5005467/
  139. www.sciencedirect.com www.sciencedirect.com
    Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma
    1
    1. scibot 08 Nov 2017
      Genome Analysis Toolkit

      Curator: @jcabotaj

      Resource used:

      (GATK, RRID:SCR_001876)

      SciCrunch record: RRID:SCR_001876

      Alternate resolvers: SciCrunch xml N2T identifiers.org

      What is this?

      RRID:SCR_001876 RRIDCUR:Missing
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    URL

    sciencedirect.com/science/article/pii/S000292971500508X