Essays about: "single nucleotide polymorphism"

Showing result 6 - 10 of 40 essays containing the words single nucleotide polymorphism.

  1. 6. Association between NT-proBNP rs198389-polymorphism and obstructive sleep apnea

    University essay from Högskolan i Skövde/Institutionen för hälsovetenskaper

    Author : Vladyslav Melnyk; [2020]
    Keywords : ;

    Abstract : The Obstructive Sleep Apnea (OSA) disorder may lead to serious complications. The development of OSA is influenced in general by combination of both genetic and environmental factors. In particular, Single Nucleotide Polymorphisms (SNPs) were suggested to contribute to the development of OSA and its severity. READ MORE

  3. 7. Optimization of a multiplex ARMS-PCR for detection of the primary mutations causing Leber’s hereditary optic neuropath

    University essay from Uppsala universitet/Institutionen för kvinnors och barns hälsa

    Author : Klara Jäder; [2020]
    Keywords : Allele-specific PCR; LHON; Multiplex Polymerase Chain Reaction; mitochondrial DNA; single nucleotide polymorphism;

    Abstract : Leber’s hereditary optic neuropathy (LHON) is a genetic disease that causes the patients to become blind, first in one eye and then the other, around the ages of 10-75 years. The disease is caused by mutations in the mitochondrial DNA, which disturbs the respiratory chain leading to the deterioration of the retinal ganglion cells. READ MORE

  4. 8. Evaluating machine learning models for predicting glioma from single nucleotide polymorphism data

    University essay from Umeå universitet/Institutionen för fysik

    Author : Tim Anthony; [2020]
    Keywords : ;

    Abstract : Early detection of cancer is necessary to minimize mental and physical distress. Therefore, this report investigated the possibilities of using machine learning methods to detect glioma in an early stage. This by looking at genetic data from real patients. READ MORE

  5. 9. Association of glut4 single nucleotide polymorphism with obstructive sleep apnea in the swedish riccadsa cohort

    University essay from Högskolan i Skövde/Institutionen för hälsovetenskaper

    Author : Juliaana Katto; [2020]
    Keywords : ;

    Abstract : Obstructive sleep apnea (OSA) is a sleep disorder affecting the respiratory airflow, characterized byoccasional interruptions in breathing (apnea) or decreased volume of respiration (hypopnea) during sleep. The disorder is estimated to affect 3-10% of the general population, with a negative impact onthe quality of life of the affected individuals. READ MORE

  6. 10. Comparing consensus modules using S2B and MODifieR

    University essay from Högskolan i Skövde/Institutionen för biovetenskap

    Author : Daniel McCoy; [2019]
    Keywords : S2B; MODifieR; specific betweenness; betweenness centrality; disease module; module inference; asthma; arthritis;

    Abstract : It is currently understood that diseases are typically not caused by rogue errors in genetics but have both molecular and environmental causes from myriad overlapping interactions within an interactome. Genetic errors, such as that seen by a single-nucleotide polymorphism can lead to a dysfunctional cell, which in turn can lead to systemic disruptions that result in disease phenotypes. READ MORE