Essays about: "genetic diagnosis"

Showing result 1 - 5 of 52 essays containing the words genetic diagnosis.

  1. 1. A Rank Score Model of Variants Prioritization for Rare Disease

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Nanxing Liu; [2023]
    Keywords : machine learning; variants; rare disease;

    Abstract : The diagnosis of genetic illnesses has undergone a revolution with advancements in sequencing technology. Next-generation sequencing (NGS) has become a standard practice in genetic diagnostics, enabling the identification of various genetic variations. READ MORE

  3. 2. Constructing and analyzing a gene-gene interaction network to identify driver modules in lung cancer using a clustering method

    University essay from Stockholms universitet/Institutionen för data- och systemvetenskap

    Author : Marcell Szalai; [2023]
    Keywords : Lung Cancer; Driver Modules; Artificial Intelligence; Clustering; Gene-Gene Interaction Network; Signaling Pathways;

    Abstract : Cancer is a complex disease with diverse genetic changes that pose significant treatment challenges due to its heterogeneity. Identifying driver modules, which are crucial for cancer progression, has been aided by artificial intelligence (AI) techniques. However, existing approaches lack specificity, particularly for cancer types like lung cancer. READ MORE

  4. 3. The battle against sepsis : exploring the genotypic diversity of pseudomonas and proteus clinical isolates

    University essay from Högskolan i Skövde/Institutionen för biovetenskap

    Author : Suud Ahmed; [2023]
    Keywords : ;

    Abstract : Sepsis is a dangerous and potentially fatal condition that has a mysterious origin, underscoring the significance of prompt and accurate diagnosis and treatment. Bacterial whole-genome sequencing, which is widely used in clinical microbiology, stands at the forefront of sequencing technologies, particularly to combat sepsis. READ MORE

  5. 4. Developing a reproducible bioinformatics workflow for canine inherited retinal disease

    University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

    Author : Melina Toni Marie Martin; [2023]
    Keywords : CanFam4; Nextflow; Inherited Retinal Degeneration; dog; whole-genome sequencing; bioinformatics;

    Abstract : Inherited Retinal Degenerations (IRDs) are a heterogenous group of diseases which lead to vision impairment and can be found both in humans and in dogs. About 1 in 1,380 humans is estimated to suffer from an autosomal recessive IRD, which would be 5.5 million people worldwide, and many more are estimated to be unaffected carriers. READ MORE

  6. 5. An Application of Cluster Analysis in Identifying and Evaluating Prognostic Subgroups for Therapy-Related Acute Myeloid Leukemia

    University essay from Uppsala universitet/Statistiska institutionen

    Author : Stefanie Antonilli; [2022]
    Keywords : AML; lymphoma; heterogeneous data; cluster analysis; k-prototypes algorithm;

    Abstract : Treatment for lymphoma with alkylating therapy is known to increase the risk of secondary malignancies such as Acute Myeloid Leukemia (AML), although the risk is not fully understood. This study investigates the characteristics of AML that arise after lymphoma treatment in contrastto AML cases without a prior lymphoma. READ MORE