Medical & Molecular Genetics
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Mobile App Resources
The range of Medical Apps has grown so much, consult your professional organization or check the journal literature for the best apps.
- FDA: Device Software Functions Including Mobile Medical ApplicationsInformation on mobile apps and which mobile medical applications the FDA regulates.
Genetics Online Resources
National Center for Biotechnology Information guides
- NCBI Genetics & Medicine resourcesView databases, downloads, submissions, tools, and more about Genetics & Medicine.
- NCBI Genomes & Maps resourcesView databases, downloads, submissions, tools, and more about Genomes & Maps.
Genetic Testing Resources
- Genetic Testing RegistryAccess genetic tests, link to information on diseases and phenotypes, genes, laboratories, GeneReviews.
Genome Browsers and Tools for Exploring Genetic Variants
- Human Phenotype Ontology (HPO)The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality.
- ClinGenNational Institutes of Health (NIH)-funded resource building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
- Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesDECIPHER is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.
- dbSNPServes as a central repository for both single-base nucleotide substitutions and short deletions/insertion polymorphisms and variants.
- Human Gene Mutation DatabaseHGMD® represents an attempt to collate all known (published) gene lesions responsible for human inherited disease and is maintained in Cardiff University. Free registration with academic e-mail is required to access the public version, a more frequently updated commercial version (not subscribed to by the Library) is also available.
- National Newborn Screening & Global Resource CenterInformation and resources on newborn screening and genetics for health professionals, public health, and consumers.
- UCSC Genome BioinformaticsIncludes a Genome Browser which has toools to explore SNP databases. Includes links to training and tutorials.
Patient Education
MedlinePlus Genetics/Birth Defects - Links to authoritative resources for laypeople
Baby’s First Test - Newborn screening information
Does It Run in the Family? - Family health history tool from Genetic Alliance
Genetics Home Reference - Consumer-friendly information about the effects of genetic variations on human health
March of Dimes - Prenatal care, healthy pregnancy, birth defects
MotherToBaby Fact Sheets - Answers frequently asked questions about exposures during pregnancy and breastfeeding