Statistical challenges in the detection of mutation and variation using high throughput sequencing

Statistical challenges in the detection of mutation and variation using high throughput sequencing

The aim of this thesis is to obtain a better understanding of mutation rates within as well as between the genomes of humans and chimpanzees using data generated by high throughput sequencers. I will start with a review of the field and an overview of the technologies and protocols used to generate...

Fuld beskrivelse

Bibliografiske detaljer
Hovedforfatter:	Pfeifer, S
Andre forfattere:	McVean, G
Format:	Thesis
Sprog:	English
Udgivet:	2012
Fag:	Genetics (life sciences) Mathematical genetics and bioinformatics (statistics) Bioinformatics (life sciences)

Lignende værker

An integrated genomic approach for the identification and analysis of single nucleotide polymorphisms that affect cancer in humans
af: Repapi, E
Udgivet: (2013)

The estimation of recombination rates from population genetic data
af: Auton, A
Udgivet: (2007)

Application of the Neutral Indel Model to genome sequences for diverse metazoans
af: Meader, S
Udgivet: (2010)

A method for the identification of biological pathways
af: Honti, F
Udgivet: (2014)

Statistical HLA type imputation from large and heterogeneous datasets
af: Dilthey, A
Udgivet: (2012)

Inferring the fine-scale structure and evolution of recombination from high-throughput genome sequencing
af: Venn, O
Udgivet: (2013)

Large-scale genetic analysis of quantitative traits
af: Randall, J, et al.
Udgivet: (2012)

Design and analysis of genome-wide association studies
af: Barrett, J
Udgivet: (2008)

On genetic variants underlying common disease
af: Hechter, E
Udgivet: (2011)

Gene x gene interactions in genome wide association studies
af: Bhattacharya, K
Udgivet: (2014)

Exploring the fold space preferences of ancient and newborn protein superfamilies
af: Edwards, H, et al.
Udgivet: (2014)

Multilocus sequence analysis of the pathogen Neisseria meningitidis
af: Wilson, D
Udgivet: (2005)

Multiple sequence analysis in the presence of alignment uncertainty
af: Herman, J, et al.
Udgivet: (2014)

Increasing statistical power and generalizability in genomics microarray research
af: Ramasamy, A
Udgivet: (2009)

NucleoFinder: a statistical approach for the detection of nucleosome positions
af: Becker, J, et al.
Udgivet: (2013)

Imputation aided analysis of the association between autoimmune diseases and the MHC
af: Moutsianas, L
Udgivet: (2011)

Fold recognition and alignment in the ‘twilight zone’
af: Hill, J, et al.
Udgivet: (2013)

Statistical methods for mapping complex traits
af: Allchin, L
Udgivet: (2014)

Statistical methods for the analysis of genetic association studies
af: Su, Z
Udgivet: (2008)

Whole-genome analysis of the transcriptional network underlying male sexual behaviour in Drosophila melanogaster
af: Ashley, E, et al.
Udgivet: (2012)

Molecular mechanisms of recombination hotspots in humans
af: Noor, N
Udgivet: (2013)

Statistical methods for genotype microarray data on large cohorts of individuals
af: O'Connell, JM
Udgivet: (2014)

Medical relevance and functional consequences of protein truncating variants
af: Rivas Cruz, M
Udgivet: (2015)

Comparative analysis of derived mutations across human populations.
af: Feder, A, et al.
Udgivet: (2013)

LD-based SNP and genotype calling from next-generation sequencing reads.
af: Menelaou, A
Udgivet: (2012)

The evolutionary dynamics of neutral networks: lessons from RNA
af: Rendel, M
Udgivet: (2008)

Identifying causative elements within structural variants associated with developmental disorders
af: Boulding, H
Udgivet: (2013)

The detection, structure and uses of extended haplotype identity in population genetic data
af: Xifara, DK
Udgivet: (2014)

Germline determinants of 5-fluorouracil drug toxicity and patient survival in colorectal cancer
af: Rosmarin, DN
Udgivet: (2013)

A statistical approach using network structure in the prediction of protein characteristics
af: Chen, P, et al.
Udgivet: (2007)

Comparative neurotranscriptomics in mammals and birds
af: Belgard, TG
Udgivet: (2011)

Statistical models for single-cell data
af: Pierson, E
Udgivet: (2015)

Comprehensive assessment of the role of DNA methylation in obesity and type 2 diabetes
af: Drong, A
Udgivet: (2014)

Genes contributing to variation in fear-related behaviour
af: Krohn, J, et al.
Udgivet: (2013)

Analyses of functional sequence in mammalian and avian genomes
af: Rands, C, et al.
Udgivet: (2014)

GAT: a simulation framework for testing the association of genomic intervals
af: Heger, A, et al.
Udgivet: (2013)

A novel domain suggests a ciliary function for ASPM, a brain size determining gene
af: Ponting, C
Udgivet: (2006)

Reproducing speech intervals in the sub-hundred millisecond (ms) range with a translocation in 7q31
af: Garcia-Bellido, P
Udgivet: (2013)

Bayesian methods for estimating human ancestry using whole genome SNP data
af: Churchhouse, C
Udgivet: (2012)

Transcriptional brain networks and their key regulators across the human lifespan
af: Wehrspaun, CC
Udgivet: (2014)