Essay On Human Genome Sequencing

Scientist is studying the human genome to determine its sequence. Understanding the genomic sequence can prevent any form of disease, however, each person does not contain the same genomes which means it is hard to understand each genomes sequences. The advantage of understanding the genomics, is to understand how human genomic mutations can lead to life-threating conditions such as cancer and prevent them from happening again. The disadvantage for researching genomics cost a lot of money, the research nearly cost thirteen-billion

Therefore the ratio of A260/230 is the concentration of DNA/ the concentration of other containments (Wilfinger). From these values one can determine that the sequencing process was successful. These values displayed that the sequencing reaction worked, but did not give the desired results and did not have a concentrated product. The amount of the DNA sample and water had to be adjusted in the tube that was going to be sent to the Cornell lab. The amount that was supposed to be used was 1.5ul of mtDNA. This value was determined by 100ng of DNA required x volume of DNA in ul divided by the concentration of DNA. The instructor simply advised to double the amount of mtDNA that would be placed in the tube. The volume of DNA used was 3uL, and the volume of sterile water used was 13.4uL. The volume of the primer used was 1.6uL(which was not adjusted). Figure 2 displays the reverse complement of the mtDNA that was obtained from the Cornell lab sequencing the mtDNA sent to them. This was then used to compare it with the CRS mtDNA. Figure 3 displays the aliment of the CRS and the revers compliemt of the mtDNA sent to the Cornell

Aziz, N., Qin, Z., Bry, L., Driscoll, D. K., Funke, B., Gibson, J. S., & ... Voelkerding, K. V. (2015). College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests. Archives Of Pathology & Laboratory Medicine, 139(4), 481-493 13p.

This method, as well as the Maxam and Gilbert method, for sequencing DNA are transforming the world of science, medicine and the views of people around the world.

Whole exome sequencing is the new generation of DNA sequencing; it is vastly more efficient and cheaper than Sanger sequencing. This method of sequencing focuses primarily on the exons in a DNA, or the portion of genes that actually code for proteins,

An electrophoresis chamber is used as a way to separate DNA and their particles, based upon their sizes and charges. The shorter particles will move faster than the longer ones because the shorter particles are able to move easier through the pores of the agarose gel. The structure of DNA, also known as deoxyribonucleic acid, is a double helix. The structure is composed of nucleotides that contain important genetic information used to help organisms survive, reproduce, and develop. The information is found inside every cell of organisms. The nucleotide on the DNA is made up of a phosphate group, a sugar group, and a nitrogenous base. There are four types of nitrogenous bases: adenine (A), thymine (T), guanine (G) and cytosine (C). DNA’s information is determined by the order of these nitrogenous bases. Micropipettes can be used in the scientific field for transferring, measuring, or injecting small amounts of liquids. Micropipettes vary in sizes; they are capable of pipetting different amounts of volumes: (P20) = 0.5- 20 microL, (P200) = 20- 200 microL, and (P1000) = 100- 1000 microL. A centrifuge is a machine that is used to separate fluids with different solidities, which is constantly

The work was also supported from Michael Stratton, the Welcome Trust Sanger Institute (WTSI) sequencing and informatics teams, and the WTSI Cancer Genome Project.

Firstly, shot-gun sequencing requires a large portion of template DNA for each read, and subsequently, numerous strands of template DNA are required for each read since a strand that terminates on each base is required for the construction of a complete sequence. However, a sequence can be achieved through a single strand using next-generation sequencing. Also, next-generation sequencing is a faster process than shot-gun sequencing since the chemical reactions taking place in next-generation sequencing can be merged with signal detection, which cannot be done with shot-gun sequencing, and next-generation sequencing allows more DNA to be read on a single run than compared to shot-gun sequencing. Additionally, next-generation sequencing results in reduced costs since not as much human labor and reagents are required as those needed for shot-gun sequencing. Furthermore, next-generation sequencing is more accurate than shot-gun sequencing as next-generation sequencing involves numerous repeats due to the need for each read to be amplified before sequencing and its dependence on numerous short overlapping reads, in order for multiple sequences of DNA and RNA to be achieved. Also, due to its cheap costs, it would be more economical to perform multiple repeats rather than shot-gun sequencing, whose costs are exceedingly greater. Therefore, due to

Sanger sequencing is the established technology that is used to validate millions of putative genetic variations identified by next-generation sequencing technology. However, Sanger sequencing throughput is limited compared to next-generation sequencing; its workflow is slow, labour-intensive, and error-prone.

The DNA concentration of 39.3ng/ul helped calculate the volume of DNA to sequence used which was 2.5ul. This had to be doubled to 5.0ul because the concentration was off and because of faint band intensity in lane 6 Figure1. Lastly the Nanodrop helped us determine the mixture of 5ul DNA, 1.6ul (10um) sequencing primer and 11.4 ul of sterile water that was sent to Cornell. Figure 2 just shows the reverse edited complement which was later compared to the CRS complement. Figure 3 shows the comparison between CRS HV1 reverse edited alignment verses my HVS1 alignment. Figure 3 and Table.1 both display at 16209 there is substitution of a ‘C” in the my mtDNA compare to the CRS. At 16223 there was another substitution of a “T” in my HVS1 sequence, the same had occurred at 16292. Lastly, there was one more substitution of a “C” at

Gel electrophoresis is another common technique in molecular biology that separates DNA fragments based on size using an electrode and agarose gel (Aaij et al., 1972). The negatively-charged DNA fragments move along the gel from the negatively charged electrode to positively charged electrode, while also moving through the small pores in the agarose gel, thereby separating the DNA fragments based on size and charge. The more negatively charged and smaller a molecule is, the farther it will travel along the electrode. The distances of the fragments are compared using the dark bands that appear in the gel following the procedure (Aaij et al., 1972).

The data collected from ExAC consisted of targeted exome sequencing using XHMM. XHMM used an algorithm to filter out individuals who were not likely to have the target genes for the CNV calling. In total, they attempted CNV calling for 60,642 of the 60,706 ExAC samples, with the remainder either having failed calling for low overall read depth or not included because of technical issues. Genes were filtered out based on the type of chromosome, unusually low or high mean coverage, multiallelic genes, and CNVs with a frequency greater than 0.5%. The authors then presented a histogram of the number of copy number variations per individual, a 2D-density plot of copy number variation number and length of CNVs, and a density plot of the amount of copy number variation per individual. They also included a table of the number of total genes affected and mean number of gene-level CNVs per individual, as well as two bar charts representing the data in the table. The purpose of the statistical analysis and modeling included in the paper was to show a data-driven way for approximating the likely deleteriousness of genic CNVs.

To begin discussion about the HGP, we first must understand what it is. It is a massive undertaking of collaboration of geneticists that begin in 1990. Their goals are to identify all the estimated 80,000 to 100,000 genes in human DNA and determine the sequences of 3 billion

Every state within the United States runs its own newborn screening program which test for at least 30 serious conditions which are treatable if caught early. The program is designed to save lives and uses the dried blood sample collected during the first week after birth. The blood sample is used to measure the presence of disease markers. The current newborn screening programs are fast, cost effective, and accurate in identifying disease before symptoms appear. Genome sequencing cost have now decrease to a price range like other complex medical test to be readily available for clinical application. It is possible for genome sequencing to replace or supplement the existing traditional panels for newborn screening tests. The

Research in the genome sequencing technology have been creating an enormous amount of genomic sequencing data as its main objective is gene identification. In the eukaryotes, the prediction of a coding region depends upon the exon-intron structures recognition. Whereas its very challenging to predict exon intron structure in sequence due to its complexity of structure and vast length. Research analysis on the human genome have nearly 20,000–25,000 protein-coding genes [1]. Still, there are nearly 100,000 genes in human genome. Which indicates a huge number of genes are still unidentified [2,3]. Most of the computational techniques