Home - Gene - NCBI - National Center for Biotechnology Information
Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide. Find genes by...
GENETICS 101 - Understanding Genetics - NCBI Bookshelf
2009年7月8日 · This chapter provides fundamental information about basic genetics concepts, including cell structure, the molecular and biochemical basis of disease, major types of genetic disease, laws of inheritance, and the impact of genetic variation.
National Center for Biotechnology Information
The National Center for Biotechnology Information advances science and health by providing access to biomedical and genomic information. About the NCBI | Mission | Organization | NCBI News & Blog ... Gene; Protein; PubChem; Follow NCBI. Connect with NLM. National Library of Medicine 8600 Rockville Pike Bethesda, MD 20894 ...
Genetics 101 Resource Guide - NNLM
The National Center for Biotechnology Information (NCBI) provides online information resources for biology, including the GenBank® nucleic acid sequence database and the PubMed® database of citations and abstracts published in life science journals.
Home - OMIM
6 天之前 · Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
The genetic basis of disease - PMC - PubMed Central (PMC)
This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.
Explore Population Genetics in dbSNP with NCBI’s Allele …
2024年5月30日 · Search dbSNP for minor allele frequencies (MAF) within ALFA’s populations to see genetic differences and get insights into human population history. This may also shed light on genetic variations and diseases that affect different populations and guide research on phenotype-genotype associations and possible treatments.
Insights into genetics, human biology and disease gleaned from …
Identifying genes and variants contributing to rare disease phenotypes and Mendelian conditions informs biology and medicine, yet potential phenotypic consequences for variation of >75% of the ~20,000 annotated genes in the human genome are lacking.
Human Molecular Genetics and Genomics - PubMed
2021年1月7日 · Epub 2021 Jan 2. 1 From the National Institutes of Health, Bethesda, MD (F.S.C., C.N.R.); the Department of Molecular and Cell Biology and the Department of Chemistry, University of California, Berkeley, Berkeley (J.A.D.); and the Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA (E.S.L.).
Genetics & Medicine - Site Guide - NCBI
A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information in the NIH Genetic Testing Registry (GTR), MedGen, Gene, OMIM, PubMed and other sources is accessible through hyperlinks on the records. ClinicalTrials.gov