Essays about: "CNV"

Showing result 1 - 5 of 6 essays containing the word CNV.

1. 1. Detecting structural variants in the DNA of the inbred Scandinavian wolf

   University essay from Uppsala universitet/Institutionen för biologisk grundutbildning

   Author : Lars Huson; [2023]
   Keywords : animal; animal population; bioinformatics; biological sciences; biology; Canis lupus; CNV; conservation genetics; conservation genomics; copy-number variation; DNA; endangered population; endangered species; evolution; evolutionary biology; extinction; genetic diversity; genetics; genetic variation; genomes; genomics; grey wolf; inbreeding; inbreeding depression; indel; mutation; pedigree; population genetics; population genomics; Scandinavia; smoove; snakemake; structural variant; SV; wolf; wolves;

   Abstract : Only 40 years ago, just three individuals made the journey from Finland/Russia to found the current wolf population in the southwest of Sweden. This population, that to this date descends from less than 10 founders, has a substantial increased extinction risk due to inbreeding. READ MORE

3. 2. Machine learning assisted decision support system for image analysis of OCT

   University essay from Luleå tekniska universitet/Institutionen för system- och rymdteknik

   Author : Elias Yacoub; [2022]
   Keywords : OCT; Optical Coherence Tomography; Sahlgrenska Hospital; Sahlgrenska University Hospital; VGG16; InceptionResNet50V2; ResNet50V2; Choroidal Neovascularization; CNV; Diabetic Macular Edema; DME; drusen; Elias Yacoub; Elias; Yacoub;

   Abstract : Optical Coherence Tomography (OCT) has been around for more than 30 years and is still being continuously improved. The department of ophthalmology is a part of Sahlgrenska Hospital that heavily uses OCT for helping people with the treatment of eye diseases. READ MORE

4. 3. Implementing ExomeDepth with a variant filter as a CNV-calling tool for germline clinical diagnostic testing

   University essay from Högskolan i Skövde/Institutionen för biovetenskap

   Author : Alice Krysén; [2022]
   Keywords : ;

   Abstract : Copy number variations (CNVs) cover approximately 4.9 - 9.5% of the human genome. CNVs are involved in both the development of disease and evolutionary adaptions. READ MORE

5. 4. Karakterisering av genetiska riskfaktorer för dilaterad kardiomyopati hos hund

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

   Author : Sofia Jankulovska; [2017]
   Keywords : dilaterad kardiomyopati; hund; grand danois; newfoundlandshundar; genetisk associationsstudie; next-generation sequencing; digitalPCR; genetiska riskfaktorer; dilated cardiomyopathy; canine; grand danois; Newfoundlands dogs; genome-wide association studies; next-generation sequencing; digitalPCR; genetic risk factors;

   Abstract : Dilaterad kardiomyopati (DCM), är en hjärtsjukdom som förekommer hos ett flertal hundraser. Etiologin är inte fastställd. Genetiska studier på hund visar att gener involverade i utvecklandet av DCM skiljer sig åt mellan olika hundraser. READ MORE

6. 5. Is the High Probability of Type II Error an Issue in Error Awareness ERP Studies?

   University essay from Högskolan i Skövde/Institutionen för biovetenskap

   Author : Boushra Dalile; [2016]
   Keywords : error awareness; error processing; type II error; error-related negativity; error positivity; error awareness task;

   Abstract : When researchers began addressing the electrophysiology of conscious error awareness more than a decade ago, the role of the error-related negativity (ERN), alongside the subsequently occurring error positivity (Pe), was an obvious locus of attention given the fact that they are taken as indices of cortical error processing. In contrast to the clear-cut findings that link the amplitude of the Pe to error awareness, the association between the ERN amplitude and error awareness is vastly unclear, with a range of studies reporting significant differences in the ERN amplitude with respect to error awareness, while others observing no modulation of the ERN amplitude. READ MORE