Essays about: "single nucleotide polymorphism"

Showing result 1 - 5 of 32 essays containing the words single nucleotide polymorphism.

  1. 1. 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

  3. 2. 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

  4. 3. Pedigree reconstruction reveals large scale movement patterns and population dynamics of wolverines (Gulo gulo) across Fennoscandia

    University essay from SLU/Dept. of Wildlife, Fish and Environmental Studies

    Author : Stephanie Higgins; [2019]
    Keywords : wolverine; pedigree; dispersal; genomics; connectivity;

    Abstract : Dispersal is a biological imperative for many species, facilitating gene flow and influencing population dynamics. Modern landscapes are increasingly fragmented, leaving species that rely on dispersal trapped in ever shrinking areas. READ MORE

  5. 4. Validation of the role of a SNP in the VPS35 gene and its effect on non-co-agulating milk in Swedish Red Cattle

    University essay from SLU/Dept. of Animal Breeding and Genetics

    Author : Gro Hylén; [2018]
    Keywords : VPS35; genotype; SNP; SR; cow; NC-milk; MCP; genomic selection;

    Abstract : From earlier studies, it is clear that nearly 20 % of the Swedish red (SR) dairy herd possess milk that doesn’t coagulate within 40 minutes after rennet addition. This is a problem when processing milk into cheese because lower cheese yield is the result of non-coagulating (NC) milk. An estimate of 17. READ MORE

  6. 5. Identifying Pathogenic Amino Acid Substitutions in Human Proteins Using Deep Learning

    University essay from KTH/Skolan för kemi, bioteknologi och hälsa (CBH)

    Author : Alexander Kvist; [2018]
    Keywords : Bioinformatics; deep learning; proteomics; mutations; single nucleotide polymorphism; SNP; convolutional neural network; variant effect prediction;

    Abstract : Many diseases of genetic origin originate from non-synonymous single nucleotide polymorphisms (nsSNPs). These cause changes in the final protein product encoded by a gene. Through large scale sequencing and population studies, there is growing availability of information of which variations are tolerated and which are not. READ MORE