How is the human genome assembly at NCBI or Ensembl representative of a 'human genome'?
The human genome assembly at NCBI or Ensembl has to be considered as a 'virtual frame'. No single individual would never have that genome.
Combination of SNPs (for any locus) can only be considered as 'true' if they were confirmed on a single chromosome (or haplotype) of an individual.
Even if genome assembly is done from DNA of a single individual it remains that the assignment to one or the other chromosome is still an issue that may result in 'mixed' haplotype.
The only definitive answer for haplotypes at the chromosome level is the sequencing of spermatozoon DNA.
Model animal species
MGI, Mouse Genome Informatics, The Jackson Laboratory, USA
IMGT-NC, IMGT Nomenclature Committee, part of IMGT®, the international ImMunoGeneTics information system® Montpellier, France.
RGNC, Rat Genome and Nomenclature Committee, responsible for the 23 Single Rat Chromosome Committee (SRCC).
myScience research environment, Applied Biosystems, Gene expression:
TaqMan® Gene Expression Assays, SNP Genotyping: TaqMan® SNP Genotyping Assays,
Gene search: search genes and view genomic products.
source bioinformatics software platform for visualizing molecular interaction
networks and integrating these interactions with gene expression profiles and
other state data.
international research project involving biological data hosts, biological
data service providers, and coders whose aim is to explore various
methodologies for biological data representation, distribution, and discovery.
Genomics Institute of the Novartis Research Foundation