42 items found

Tags: Mutation

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  • dataset

    Additional file 1: of Urea cycle disorders in India: clinical course, biochem...

    Details of clinical, biochemical and molecular analysis and of outcomes and prenatal diagnoses in each patient in the study. The data provides complete information about each...
  • dataset

    all_mutations_rel606_global_rank_new_ecoli_remove_space.dat

    Mutation effect prediction with the DCA model
  • dataset

    Dryad

    This excel workbook contains all the data used for analyses in the manuscript. The first worksheet "All" was used for estimating variance components and subsequent analyses...
  • dataset

    Vogwill Maclean metanalysis for dryad August 2014

    Excel file containing all data relevant for statistical analyses.
  • dataset

    r37980778c78--69fb952c70cb04422368b7889d5027d6

    The Context-Dependence of Mutations: A Linkage of Formalisms
  • dataset

    Mathematica codes

    The zip file contains the article, Mathematica codes and data that take a long time to calculate.
  • dataset

    Additional file 2: of Muver, a computational framework for accurately calling...

    Results Files. Zip file containing VCF and TXT formatted muver results for all yeast data sets analyzed. (ZIP 10697 kb)
  • dataset

    Goodman_etal_Chernobyl1

    Life history data for Daphnia pulex sampled in Chernobyl and assessed under natural UK background conditions in the laboratory.
  • dataset

    all_mutations_rel606_global_rank_new_ecoli_remove_ip_space.dat

    Mutation effect prediction with the independent site model
  • publication

    Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-relate...

    Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle...
  • publication

    1000 human genomes carry widespread signatures of GC biased gene conversion

    Background GC-Biased Gene Conversion (gBGC) is one of the important theories put forward to explain profound long-range non-randomness in nucleotide compositions along mammalian...
  • publication

    Using a PyMOL Activity to Reinforce the Connection between Genotype and Pheno...

    With the purpose of developing an activity that would help clarify genetic concepts related to the connection between genotype and phenotype and the nature of mutations, we...
  • publication

    Everolimus improves neuropsychiatric symptoms in a patient with tuberous scle...

    Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple symptoms including neuropsychological deficits such as seizures, intellectual disability,...
  • publication

    "A scalability study of phylogenetic network inference methods using empirica...

    Background Branching events in phylogenetic trees reflect bifurcating and/or multifurcating speciation and splitting events. In the presence of gene flow, a phylogeny cannot be...
  • publication

    Widespread parainflammation in human cancer

    Background Chronic inflammation has been recognized as one of the hallmarks of cancer. We recently showed that parainflammation, a unique variant of inflammation between...
  • publication

    Paramutation-like features of multiple natural epialleles in tomato

    Background Freakish and rare or the tip of the iceberg? Both phrases have been used to refer to paramutation, an epigenetic drive that contravenes Mendel’s first law of...
  • publication

    Encompassing new use cases - level 3.0 of the HUPO-PSI format for molecular i...

    [Background]: Systems biologists study interaction data to understand the behaviour of whole cell systems, and their environment, at a molecular level. In order to effectively...
  • publication

    Correlation of KIT and PDGFRA mutational status with clinical benefit in pati...

    Background: Several small studies indicated that the genotype of KIT or platelet-derived growth factor receptor-α (PDGFRA) contributes in part to the level of clinical...
  • publication

    Over a century of cancer research: Inconvenient truths and promising leads

    Despite over a century of intensive efforts, the great gains promised by the War on Cancer nearly 50 years ago have not materialized. Since 1999, we have analyzed the lack of...
  • publication

    Virologists-Heroes need weapons.

    Virologists. You might know a couple of them, but unless you are a virologist yourself, the probability that you have collaborated with one in the past is low. The community is...