BIOINFORMATICS APPLICATIONS NOTE
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Summary
In an effort to validate and link variants from the medical genetics literature to an unambiguous reference for each variant, a software pipeline was developed and 68641 single amino acid mutations from Online Mendelian Inheritance in Man, Human Gene Mutation Database and dbSNP were reviewed.
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References
- Common sense for our genomes
- The incidentalome: a threat to genomic medicine.
- 'Omics Data Sharing
- The human genome browser at UCSC.
- Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome
- McKusick's Online Mendelian Inheritance in Man (OMIM®)
- Novel tools for extraction and validation of disease‐related mutations applied to fabry disease
- Codon usage tabulated from international DNA sequence databases: status for the year 2000
- Challenges in the clinical application of whole-genome sequencing.
- The Human Gene Mutation Database: 2008 update
- Automated extraction of mutation data from the literature: application of MuteXt to G protein-coupled receptors and nuclear hormone receptors
- Clinical assessment incorporating a personal genome
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