- Title Information
- Title
- Bayesian statistical inference of non-allelic homologous recombination in the human genome using high-throughput sequencing data
- Name:
Personal
- Name Part
- Parks, Matthew
- Role
- Role Term:
Text
- creator
- Origin Information
- Copyright Date
- 2014
- Physical Description
- Extent
- 11, 139 p.
- digitalOrigin
- born digital
- Note
- Thesis (Ph.D. -- Brown University (2014)
- Name:
Personal
- Name Part
- Lawrence, Charles
- Role
- Role Term:
Text
- Director
- Name:
Personal
- Name Part
- Thompson, William
- Role
- Role Term:
Text
- Reader
- Name:
Personal
- Name Part
- Raphael, Benjamin
- Role
- Role Term:
Text
- Reader
- Name:
Corporate
- Name Part
- Brown University. Applied Mathematics
- Role
- Role Term:
Text
- sponsor
- Genre (aat)
- theses
- Abstract
- Non-allelic homologous recombination (NAHR) plays a major role in genome rearrangement and is implicated in numerous genetic disorders. But detection of NAHR poses a serious technical challenge because its breakpoints occur in nearly identical regions of highly homologous repeats. While a few structural variation algorithms identify rearrangements in repeat regions, reliable detection of NAHR remains out of reach. We present a probabilistic model of NAHR and demonstrate its ability to find previously-undetected NAHR rearrangements from low coverage sequencing data. We identify a reliable subset of calls and discuss their significance: segregation of NAHR in different populations, effects on highly studied genes such as GBA and CYP2E1, and associated features of NAHR.
- Subject
- Topic
- bayesian
- Subject
- Topic
- bayesian statistics
- Subject
- Topic
- sequencing
- Subject
- Topic
- NAHR
- Subject
- Topic
- genome rearrangement
- Subject
- Topic
- structural variation
- Subject (FAST)
(authorityURI="http://id.worldcat.org/fast", valueURI="http://id.worldcat.org/fast/829019")
- Topic
- Bayesian statistical decision theory
- Subject (FAST)
(authorityURI="http://id.worldcat.org/fast", valueURI="http://id.worldcat.org/fast/1423727")
- Topic
- Statistics
- Record Information
- Record Content Source (marcorg)
- RPB
- Record Creation Date
(encoding="iso8601")
- 20141006
- Language
- Language Term:
Code (ISO639-2B)
- eng
- Language Term:
Text
- English
- Identifier:
DOI
- 10.7301/Z04J0CGN
- Access Condition:
rights statement
(href="http://rightsstatements.org/vocab/InC/1.0/")
- In Copyright
- Access Condition:
restriction on access
- Collection is open for research.
- Type of Resource (primo)
- dissertations