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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awdur:	Pfeifer, S
Awduron Eraill:	McVean, G
Fformat:	Traethawd Ymchwil
Iaith:	English
Cyhoeddwyd:	2012
Pynciau:	Genetics (life sciences) Mathematical genetics and bioinformatics (statistics) Bioinformatics (life sciences)

Eitemau Tebyg

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

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

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

A method for the identification of biological pathways
gan: Honti, F
Cyhoeddwyd: (2014)

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

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

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

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

On genetic variants underlying common disease
gan: Hechter, E
Cyhoeddwyd: (2011)

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

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

Multilocus sequence analysis of the pathogen Neisseria meningitidis
gan: Wilson, D
Cyhoeddwyd: (2005)

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

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

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

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

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

Statistical methods for mapping complex traits
gan: Allchin, L
Cyhoeddwyd: (2014)

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

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

Molecular mechanisms of recombination hotspots in humans
gan: Noor, N
Cyhoeddwyd: (2013)

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

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

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

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

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

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

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

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

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

Comparative neurotranscriptomics in mammals and birds
gan: Belgard, TG
Cyhoeddwyd: (2011)

Statistical models for single-cell data
gan: Pierson, E
Cyhoeddwyd: (2015)

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

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

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

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

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

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

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

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