Showing 1 - 20 results of 38 for search '"ANNOVAR"', query time: 0.64s Refine Results
  1. 1
    Estudo genético e molecular da síndrome de Waardenburg
    Subjects: “... Annovar ...”
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  2. 2
    Estudo genético e molecular da síndrome de Waardenburg
    Subjects: “...Annovar...”
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  3. 3
    ShAn: An easy-to-use tool for interactive and integrated variant annotation.
    “... of the currently available robust annotation tools, like ANNOVAR, are command-line based tools which require a...”
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    Article
  4. 4
    Estimating the mutational load for cardiovascular diseases in Pakistani population.
    “... Depletion (CADD), ANNOVAR, and Variant Effect Predictor (VEP), we highlighted 561 potentially detrimental...”
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    Article
  5. 5
    PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING
    “... of the data were performed. Point mutations were annotated using ANNOVAR program, as well as comparison with a...”
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    Article
  6. 6
    TAPES: A tool for assessment and prioritisation in exome studies.
    “... studies. TAPES can quickly assign ACMG criteria using ANNOVAR or VEP annotated files and implements a...”
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    Article
  7. 7
    PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING
    “... annotated using ANNOVAR program, as well as comparison with a number of specialized databases was done...”
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    Article
  8. 8
    Mutations in KIF27, GNAS and IFT140 genes in a patient with VACTERL association: a case report
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    Article
  9. 9
    Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis
    “... and heterozygous in the parents. Using the computer software packages ANNOVAR and SIFT to functionally annotate...”
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    Article
  10. 10
    Beyond sequencing: re-visiting annotations for PJL as a test case
    “... the genetic variants with multiple annotations tools, ANNOVAR and SnpEff and compared the differential results...”
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    Article
  11. 11
    Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
    “... if these scores correlate with disease severity. Results wANNOVAR, a popular tool that can generate several...”
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    Article
  12. 12
    Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.
    “... on the Illumina HiSeq2000, and applied BWA, SAMtools, Picard, GATK, Variant Tools, ANNOVAR, and IGV...”
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    Article
  13. 13
    Genetic biomarkers of chemotherapy response and resistance in lung cancer patients
    by Nelmes, David-John
    Published 2018
    “... reports that Next Generation Sequencing (NGS) with software VarScan with Annovar, can detect mutations...”
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  14. 14
    A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family
    “... using the Human Splicing Finder and MaxEnt online software and Annovar computer software. CONCLUSION: c...”
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    Article
  15. 15
    Revealing Genomic Profile That Underlies Tropism of Myeloma Cells Using Whole Exome Sequencing
    “... nucleotide variants (SNV) calling, we used Varscan2. Annotation of mutation was performed using ANNOVAR...”
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    Article
  16. 16
    Variant Ranker: a web-tool to rank genomic data according to functional significance
    “... information and additional open-source annotations using accessible databases via ANNOVAR. The available...”
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    Article
  17. 17
    Identifying Causative Genetic Variants of Pheochromocytoma and Paraganglioma by Next-Generation Sequencing (NGS) in Taiwan
    by Yuh-Tsyr Chou, 周毓慈
    Published 2019
    “... SortSam, MarkDuplicates, GATK-BQSR and ANNOVAR). Variants were filtering according to the allele...”
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  18. 18
    Application of Next Generation Sequencing to Establish the Genetic Testing Platform for Hereditary Hearing Impairment
    by Yin-Hung Lin, 林盈宏
    Published 2014
    “..., ANNOVAR, and IGV for bioinformatics analyses. Criteria for data filtering included: allele frequencies <5...”
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  19. 19
    Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing
    “... frequency, functional impact with annovar insilico algorithms. Further variant information from significant...”
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    Article
  20. 20
    Low-Frequency IL23R Coding Variant Associated with Crohn's Disease Susceptibility in Japanese Subjects Identified by Personal Genomics Analysis.
    “... implemented in ANNOVAR in combination with identity-by-descent (IBD), subsequently were subjected...”
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    Article
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