We are analyzing https://link.springer.com/article/10.1007/s00439-017-1779-6.

Title:
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.
Website Age:
28 years and 1 months (reg. 1997-05-29).

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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 {🗺️}

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         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.
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            Variant Call Format
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            Gene Function
            Metabolic Diseases
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      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.
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         Mutation Data
         Human Gene Mutation Database
         Variant Call Format
         Unify Medical Language System Concept
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         Molecular Medicine
         Gene Function
         Metabolic Diseases
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