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DOI . ORG {}

  1. Analyzed Page
  2. Matching Content Categories
  3. CMS
  4. Monthly Traffic Estimate
  5. How Does Doi.org Make Money
  6. Keywords
  7. Topics
  8. Questions
  9. Schema
  10. External Links
  11. Analytics And Tracking
  12. Libraries
  13. Hosting Providers
  14. CDN Services

We began analyzing https://link.springer.com/article/10.1007/s00439-017-1779-6, but it redirected us to https://link.springer.com/article/10.1007/s00439-017-1779-6. The analysis below is for the second page.

Title[redir]:
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies | Human Genetics
Description:
The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD ( http://www.hgmd.org ) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.

Matching Content Categories {📚}

  • Education
  • Science
  • Technology & Computing

Content Management System {📝}

What CMS is doi.org built with?

Custom-built

No common CMS systems were detected on Doi.org, and no known web development framework was identified.

Traffic Estimate {📈}

What is the average monthly size of doi.org audience?

🏙️ Massive Traffic: 50M - 100M visitors per month


Based on our best estimate, this website will receive around 98,426,998 visitors per month in the current month.

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How Does Doi.org Make Money? {💸}

We're unsure how the site profits.

Some websites aren't about earning revenue; they're built to connect communities or raise awareness. There are numerous motivations behind creating websites. This might be one of them. Doi.org has a revenue plan, but it's either invisible or we haven't found it.

Keywords {🔍}

pubmed, hgmd, article, google, scholar, cas, variants, data, central, cooper, mutation, human, disease, variant, functional, sequencing, mutations, hum, database, gene, genome, stenson, additional, genet, literature, professional, genetic, mort, clinical, users, project, pathogenic, inherited, number, information, search, variation, genomes, analysis, consortium, kim, studies, databases, exome, fig, mutat, ngs, sequence, wang, genes,

Topics {✒️}

/products/human-gene-mutation-database/ literature-based scoring system article download pdf intronic single-nucleotide variations el-kalioby alkuraya fs central unified repository natural language processing cell type-dependent manner variant call format medical genetics large-scale ngs projects umls high-level concepts protein-coding genetic variation rare missense mutations long-term population decline locus-specific mutation databases human protein-coding genes ca/dgv/app/home apparently disease-causing mutations population-scale sequencing study user-defined sequence motifs including article titles population case–control studies population-scale ngs datasets medical subject headings locally installed/downloadable version autosomal recessive diseases single characterised gene high-throughput ngs methods coding region micro-lesions negative case–control studies synonymous single-nucleotide variants genome/population screening studies low-frequency coding variation machine learning-based prediction medical research keywords found gene-level approach human gene mutation post-ngs variant interpretation human inherited disease disease-causing mutation human pathogenic micro-insertions gene variant databases analyze rare disorders genome-wide significance testing uk/resources/software/gff/ gene damage index inherited mutation data privacy choices/manage cookies

Questions {❓}

  • ), it may be flagged with a question mark (DM?
  • In comparison, HGMD currently contains 193,904 DM and DM?
  • The DM and DM?
  • The DM classification may, however, also appear with a question mark (DM?
  • We have plans to introduce a literature-based variant scoring system to allow NGS researchers and clinicians to improve their prioritisation of DM/DM?
  • The DM?
  • Those which fall into the DM and DM?
  •  2 that the proportion of reported mutations belonging to the DM?

Schema {🗺️}

WebPage:
      mainEntity:
         headline:The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
         description:The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD ( http://www.hgmd.org ) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.
         datePublished:2017-03-27T00:00:00Z
         dateModified:2017-03-27T00:00:00Z
         pageStart:665
         pageEnd:677
         license:http://creativecommons.org/licenses/by/4.0/
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            Unify Medical Language System
            Mutation Data
            Human Gene Mutation Database
            Variant Call Format
            Unify Medical Language System Concept
            Human Genetics
            Molecular Medicine
            Gene Function
            Metabolic Diseases
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ScholarlyArticle:
      headline:The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
      description:The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently accumulating at a rate exceeding 17,000 per annum, HGMD represents de facto the central unified gene/disease-oriented repository of heritable mutations causing human genetic disease used worldwide by researchers, clinicians, diagnostic laboratories and genetic counsellors, and is an essential tool for the annotation of next-generation sequencing data. The public version of HGMD ( http://www.hgmd.org ) is freely available to registered users from academic institutions and non-profit organisations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via QIAGEN Inc.
      datePublished:2017-03-27T00:00:00Z
      dateModified:2017-03-27T00:00:00Z
      pageStart:665
      pageEnd:677
      license:http://creativecommons.org/licenses/by/4.0/
      sameAs:https://doi.org/10.1007/s00439-017-1779-6
      keywords:
         Unify Medical Language System
         Mutation Data
         Human Gene Mutation Database
         Variant Call Format
         Unify Medical Language System Concept
         Human Genetics
         Molecular Medicine
         Gene Function
         Metabolic Diseases
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                     name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
                     type:PostalAddress
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                  address:
                     name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
                     type:PostalAddress
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            affiliation:
                  name:Cardiff University
                  address:
                     name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
                     type:PostalAddress
                  type:Organization
            type:Person
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            affiliation:
                  name:Cardiff University
                  address:
                     name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
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            name:Cardiff University
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               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
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      name:Matthew Mort
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               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
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      name:Edward V. Ball
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            name:Cardiff University
            address:
               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
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               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
            type:Organization
      name:Matthew Hayden
      affiliation:
            name:Cardiff University
            address:
               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
            type:Organization
      name:Sally Heywood
      affiliation:
            name:Cardiff University
            address:
               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
            type:Organization
      name:Michelle Hussain
      affiliation:
            name:Cardiff University
            address:
               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
            type:Organization
      name:Andrew D. Phillips
      affiliation:
            name:Cardiff University
            address:
               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
            type:Organization
      name:David N. Cooper
      affiliation:
            name:Cardiff University
            address:
               name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
      name:School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK

External Links {🔗}(519)

Analytics and Tracking {📊}

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Libraries {📚}

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Emails and Hosting {✉️}

Mail Servers:

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Name Servers:

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CDN Services {📦}

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