Human (Homo sapiens) Genome Browser Gateway. The February 2009 human reference sequence (GRCh37) was produced by the Genome Reference Consortium.
For more information about this assembly, see GRCh37 in the NCBI Assembly database. Sample position queries A genome position can be specified by the accession number of a sequenced genomic clone, an mRNA or EST or STS marker, a chromosomal coordinate range, or keywords from the GenBank description of an mRNA. The following list shows examples of valid position queries for the human genome. See the User's Guide for more information. Ensembl Genome Browser. Interactive Biosoftware - Alamut. Gene browser supporting human genes (protein coding, non-protein coding and pseudogenes)A single-user interface with relevant annotations gathered from public databases (like NCBI, UCSC, EBI)HGVS nomenclature compliant softwareMutation reporting with pathogenicity cluesCalculate functional impact of variants with relevant prediction tools: Splicing prediction tools (SpliceSiteFinder-like, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder)ESE toolsMissense prediction tools (Align GVGD, SIFT, MutationTaster, PolyPhen-2)Advanced BAM NGS alignments viewer with VCF support Automatically connects to the well-curated Alamut software suite databaseManages and visualizes lab’s variantsAutomatic form filling of web-based missense prediction toolsMutation-focused search engine over PubMed abstracts (Talamut)Manages and visualizes sequence based private annotations (e.g. primers, probes)Uses standard bioinformatics file formats (e.g., BAM, BED, GFF…) External annotations link like LSDBs, LOVD.