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There are two distinctive mapping approaches used in the field of genome mapping: genetic maps (also known as linkage maps) [7] and physical maps. [3] While both maps are a collection of genetic markers and gene loci, [8] genetic maps' distances are based on the genetic linkage information, while physical maps use actual physical distances usually measured in number of base pairs.
Low-resolution physical mapping is typically capable of resolving DNA ranging from one base pair to several mega bases. In this category, most mapping methods involve generating a somatic cell hybrid panel, which is able to map any human DNA sequences, the gene of interest [clarification needed], to specific chromosomes of animal cells, such as those of mice and hamsters. [4]
GenMAPP (Gene Map Annotator and Pathway Profiler) is a free, open-source bioinformatics software tool designed to visualize and analyze genomic data in the context of pathways (metabolic, signaling), connecting gene-level datasets to biological processes and disease. [1]
An example of a variation map is the HapMap being developed by the International HapMap Project. The HapMap is a haplotype map of the human genome, "which will describe the common patterns of human DNA sequence variation." [79] It catalogs the patterns of small-scale variations in the genome that involve single DNA letters, or bases.
Logo of the Human Genome Project. The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint.
Optical mapping [1] is a technique for constructing ordered, genome-wide, high-resolution restriction maps from single, stained molecules of DNA, called "optical maps". By mapping the location of restriction enzyme sites along the unknown DNA of an organism, the spectrum of resulting DNA fragments collectively serves as a unique "fingerprint" or "barcode" for that sequence.
Thus, the genome sequences can be used to identify gene function, by analyzing their homology (sequence similarity) to genes of known function. Human FOXP2 gene and evolutionary conservation is shown in and multiple alignment (at bottom of figure) in this image from the UCSC Genome Browser. Note that conservation tends to cluster around coding ...
IBD mapping can be seen as a new form of association analysis that increases the power to map genes or genomic regions containing multiple rare disease susceptibility variants. [ 6 ] [ 14 ] Using simulated data, Browning and Thompson showed that IBD mapping has higher power than association testing when multiple rare variants within a gene ...