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A genome map is less detailed than a genome sequence and aids in navigating around the genome. [75] [76] 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."
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.
The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors.
The Human Pangenome Reference is a collection of genomes from a diverse cohort of individuals compiled by the Human Pangenome Reference Consortium (HPRC). This first draft pangenome comprises 47 phased, diploid assemblies from a diverse cohort of individuals and was intended to capture the genetic diversity of the human population. The ...
This map provides sequences of known distances apart, which can be used to help with the assembly of sequence reads acquired through shotgun sequencing. [4] The human genome sequence, which was declared complete in 2003, was assembled using both a BAC library and shotgun sequencing. [18] [19]
The first genome browser, known as the Ensembl Genome Browser, was developed as part of the Human Genome Project by a group of researchers from the European Bioinformatics Institute (EBI). It was created with the aim of providing a complete resource for the human genome sequence, with focus on gene annotation.
In 2010 a study estimated that a complete human pan-genome would contain ~19–40 Megabases of novel sequence not present in the extant reference human genome. [44] The Human Pangenome consortium has the goal to acknowledge the human genome diversity. In 2023, a draft human pangenome reference was published. [45]
PLINK [1] is a free, commonly used, open-source whole-genome association analysis toolset designed by Shaun Purcell. The software is designed flexibly to perform a wide range of basic, large-scale genetic analyses. PLINK currently supports following functionalities: data management;