A Bayesian Tool for Estimating Allele Frequencies via Hardy-Weinberg Equilibrium for Structural Variants / Behzod Mirpochoev.
Structural variants are large scale genomic rearrangements encompassing insertions, deletions, duplications, inversions, and translocations, which significantly impact genetic diversity and disease mechanisms. Accurately identifying and characterizing these variants, however, is challenging due to t...
Saved in:
| Online Access: |
Connect to online resource |
|---|---|
| Main Author: | |
| Format: | Thesis Electronic eBook |
| Language: | English |
| Published: |
Ann Arbor :
ProQuest Dissertations & Theses,
2024.
|
| Subjects: |
MARC
| LEADER | 00000nam a22000003i 4500 | ||
|---|---|---|---|
| 001 | in00000231075 | ||
| 006 | m d | ||
| 007 | cr un | ||
| 008 | 240718s2024 miu|||||sm |||| ||eng d | ||
| 005 | 20240903195025.7 | ||
| 020 | |a 9798382821122 | ||
| 035 | |a (MiAaPQD)AAI31239350 | ||
| 035 | |a AAI31239350 | ||
| 040 | |a MiAaPQD |b eng |e rda |c MiAaPQD | ||
| 100 | 1 | |a Mirpochoev, Behzod, |e author. | |
| 245 | 1 | 2 | |a A Bayesian Tool for Estimating Allele Frequencies via Hardy-Weinberg Equilibrium for Structural Variants / |c Behzod Mirpochoev. |
| 264 | 1 | |a Ann Arbor : |b ProQuest Dissertations & Theses, |c 2024. | |
| 300 | |a 1 electronic resource (48 pages) | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 506 | |a This item is not available from ProQuest Dissertations & Theses. | ||
| 590 | |a School code: 0051 | ||
| 500 | |a Source: Masters Abstracts International, Volume: 85-12. | ||
| 500 | |a Advisors: Clauset, Aaron Committee members: Layer, Ryan; Kissler, Stephen. | ||
| 502 | |b M.Comp.Sc. |c University of Colorado at Boulder |d 2024. | ||
| 520 | |a Structural variants are large scale genomic rearrangements encompassing insertions, deletions, duplications, inversions, and translocations, which significantly impact genetic diversity and disease mechanisms. Accurately identifying and characterizing these variants, however, is challenging due to their complex nature and irregular distribution across the genome. Traditional alignment-based methods encounter difficulties in accurately identifying structural variants, particularly in genomic regions of high variability or low complexity. The evaluation of detection algorithms is hindered by the absence of reliable standards, leading to inconsistent findings across different investigations. To address these issues, we introduce an approach that improves the detection and classification of structural variants by utilizing the Hardy-Weinberg principle. We developed a workflow that distinguishes between cases in Hardy-Weinberg equilibrium and those not in equilibrium. We introduce a benchmarking system that makes use of both synthetic and empirical genomic datasets. This approach is a reliable tool for studying structural variants, thereby facilitating greater understanding of genomic diversity and disease. | ||
| 546 | |a English | ||
| 650 | 0 | |a Bioinformatics. |0 http://id.loc.gov/authorities/subjects/sh00003585 | |
| 650 | 0 | |a Computer science. |0 http://id.loc.gov/authorities/subjects/sh89003285 | |
| 650 | 0 | |a Genetics. |0 http://id.loc.gov/authorities/subjects/sh85053877 | |
| 653 | |a Genomic datasets | ||
| 653 | |a Structural variants | ||
| 653 | |a Hardy-Weinberg equilibrium | ||
| 653 | |a Bayesian tool | ||
| 655 | 7 | |a Theses |x CU Boulder |x Computer Science. |2 local | |
| 700 | 1 | |a Clauset, Aaron, |e degree supervisor. | |
| 773 | 0 | |t Masters Abstracts International |g 85-12. | |
| 791 | |a M.Comp.Sc. | ||
| 792 | |a 2024 | ||
| 856 | 4 | 0 | |z Connect to online resource |u https://colorado.idm.oclc.org/login?url=https://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqm&rft_dat=xri:pqdiss:31239350 |
| 944 | |a MARS - RDA ENRICHED | ||
| 956 | |a ETD | ||
| 999 | f | f | |s beb24202-965b-475c-a85b-fe62fa4c8b62 |i 29782455-479d-49c0-8d58-b50f2df31b16 |
| 952 | f | f | |p Can circulate |a University of Colorado Boulder |b Online |c Online |d Online |i web |