Release date: 2018-01-24
Knowing which parent to analyze the gene mutations can determine a set of associated SNP alleles (ie, haplotypes) located in a region of the chromosome. For human genome sequencing, this is A new qualitative leap. In order to calculate whether each gene sequence was inherited from Dad or Mom, scientists at the Bioinformatics Center of the University of Saarland in Germany developed a famous tool so that the "Nature Communications" journal has two consecutive articles.
Humans have 46 chromosomes that contain genetic information about life (ie, the genome). The total number of chromosomes in the offspring is consistent with that of the parent. Therefore, there are only 23 chromosomes in the germ cells of the parents (father and mother), and the sperm and the egg fuse into fertilized eggs, giving birth to new life.
A half set of chromosomes is defined as "haploid". “The different gene versions inherited from the father or mother determine whether the child will get sick and how to get sick if he is ill,†explains Tobias Marschall, a professor of bioinformatics at Saarland University, who is the “genomics algorithm†group at the Center for Bioinformatics. leader.
Knowing which parent to analyze the gene mutations can determine a set of associated SNP alleles (ie, haplotypes) located in a region of the chromosome. For human genome sequencing, this is A new qualitative leap.
Two technologies worthy of history are the “third-generation sequencing technologies†created by companies such as Oxford Nanopore, 10x Genomics, and Pacific Biosciences, which provide massive amounts of data for human genome analysis. "With these technologies, we can now get longer gene fragments," Marschall said.
The second necessary technique is a computer algorithm. In order to make the massive genetic data set more manageable, Marschall and colleagues developed the "WhatsHap" software. Two articles in Nature Communications detail how WhatsHap is used. "With the help of these programs, it is foreseeable that identifying a person's haplotype will soon become a routine hospital check, as simple as today's blood group tests," Marschall said.
These two articles are the first milestones in the field of haplotype detection.
Reference materials:
Dense and accurate whole-chromosome haplotyping of individual genomes
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
Source: Biopass
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