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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखक:	Pfeifer, S
अन्य लेखक:	McVean, G
स्वरूप:	थीसिस
भाषा:	English
प्रकाशित:	2012
विषय:	Genetics (life sciences) Mathematical genetics and bioinformatics (statistics) Bioinformatics (life sciences)

समान संसाधन

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

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

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

A method for the identification of biological pathways
द्वारा: Honti, F
प्रकाशित: (2014)

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

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

Large-scale genetic analysis of quantitative traits
द्वारा: Randall, J, और अन्य
प्रकाशित: (2012)

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

On genetic variants underlying common disease
द्वारा: Hechter, E
प्रकाशित: (2011)

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

Exploring the fold space preferences of ancient and newborn protein superfamilies
द्वारा: Edwards, H, और अन्य
प्रकाशित: (2014)

Multilocus sequence analysis of the pathogen Neisseria meningitidis
द्वारा: Wilson, D
प्रकाशित: (2005)

Multiple sequence analysis in the presence of alignment uncertainty
द्वारा: Herman, J, और अन्य
प्रकाशित: (2014)

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

NucleoFinder: a statistical approach for the detection of nucleosome positions
द्वारा: Becker, J, और अन्य
प्रकाशित: (2013)

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

Fold recognition and alignment in the ‘twilight zone’
द्वारा: Hill, J, और अन्य
प्रकाशित: (2013)

Statistical methods for mapping complex traits
द्वारा: Allchin, L
प्रकाशित: (2014)

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

Whole-genome analysis of the transcriptional network underlying male sexual behaviour in Drosophila melanogaster
द्वारा: Ashley, E, और अन्य
प्रकाशित: (2012)

Molecular mechanisms of recombination hotspots in humans
द्वारा: Noor, N
प्रकाशित: (2013)

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

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

Comparative analysis of derived mutations across human populations.
द्वारा: Feder, A, और अन्य
प्रकाशित: (2013)

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

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

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

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

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

A statistical approach using network structure in the prediction of protein characteristics
द्वारा: Chen, P, और अन्य
प्रकाशित: (2007)

Comparative neurotranscriptomics in mammals and birds
द्वारा: Belgard, TG
प्रकाशित: (2011)

Statistical models for single-cell data
द्वारा: Pierson, E
प्रकाशित: (2015)

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

Genes contributing to variation in fear-related behaviour
द्वारा: Krohn, J, और अन्य
प्रकाशित: (2013)

Analyses of functional sequence in mammalian and avian genomes
द्वारा: Rands, C, और अन्य
प्रकाशित: (2014)

GAT: a simulation framework for testing the association of genomic intervals
द्वारा: Heger, A, और अन्य
प्रकाशित: (2013)

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

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

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

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