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Association mapping has been most widely applied to the study of human disease, specifically in the form of a genome-wide association study (GWAS). A genome-wide association study is performed by scanning an entire genome for SNPs associated with a particular trait of interest, or in the case of human disease, with a particular disease of interest.
The human genome was the first of all vertebrates to be sequenced to such near-completion, and as of 2018, the diploid genomes of over a million individual humans had been determined using next-generation sequencing. [59] These data are used worldwide in biomedical science, anthropology, forensics and other branches of science.
Both the micrographic and schematic karyograms show the normal human diploid karyotype, which is the typical composition of the genome within a normal cell of the human body, and which contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes).
The list of organisms by chromosome count describes ploidy or numbers of chromosomes in the cells of various plants, animals, protists, and other living organisms.This number, along with the visual appearance of the chromosome, is known as the karyotype, [1] [2] [3] and can be found by looking at the chromosomes through a microscope.
There are about ~20,000 protein coding genes in the standard human genome. (Roughly ~1200 already have Wikipedia articles - the Gene Wiki - about them) if we are Including splice variants, there could be as many as 500,000 unique human proteins [ 16 ]
By the 2010s, the genome sequences of more than a thousand-human individuals (through the 1000 Genomes Project) and several model organisms became available. As such, genome annotation remains a major challenge for scientists investigating the human and other genomes. [21] [22]
The human genome is the total collection of genes in a human being contained in the human chromosome, composed of over three billion nucleotides. [2] In April 2003, the Human Genome Project was able to sequence all the DNA in the human genome, and to discover that the human genome was composed of around 20,000 protein coding genes.
•List of human protein-coding genes page 2 covers genes EPHA1–MTMR3 •List of human protein-coding genes page 3 covers genes MTMR4–SLC17A7 •List of human protein-coding genes page 4 covers genes SLC17A8–ZZZ3 NB: Each list page contains 5000 human protein-coding genes, sorted alphanumerically by the HGNC-approved gene symbol.