Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

[HTML][HTML] The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration

SL Hauser, JR Oksenberg - Neuron, 2006 - cell.com
The autoimmune model of multiple sclerosis (MS) pathogenesis provided for many years a
useful but incomplete conceptual framework for understanding the complex array of factors …

Genome-wide association studies: theoretical and practical concerns

WYS Wang, BJ Barratt, DG Clayton… - Nature Reviews Genetics, 2005 - nature.com
To fully understand the allelic variation that underlies common diseases, complete genome
sequencing for many individuals with and without disease is required. This is still not …

Evolutionary genetics of genome merger and doubling in plants

JJ Doyle, LE Flagel, AH Paterson… - Annual review of …, 2008 - annualreviews.org
Polyploidy is a common mode of evolution in flowering plants. The profound effects of
polyploidy on gene expression appear to be caused more by hybridity than by genome …

Genetics of global gene expression

MV Rockman, L Kruglyak - Nature Reviews Genetics, 2006 - nature.com
A new field of genetic analysis of global gene expression has emerged in recent years,
driven by the realization that traditional techniques of linkage and association analysis can …

[HTML][HTML] The 4D nucleome: Evidence for a dynamic nuclear landscape based on co-aligned active and inactive nuclear compartments

T Cremer, M Cremer, B Hübner, H Strickfaden… - FEBS letters, 2015 - Elsevier
Recent methodological advancements in microscopy and DNA sequencing-based methods
provide unprecedented new insights into the spatio-temporal relationships between …

Why the need for qPCR publication guidelines?—The case for MIQE

SA Bustin - Methods, 2010 - Elsevier
The polymerase chain reaction (PCR) has matured from a labour-and time-intensive, low
throughput qualitative gel-based technique to an easily automated, rapid, high throughput …

Highly parallel SNP genotyping

JB Fan, A Oliphant, R Shen… - Cold Spring Harbor …, 2003 - symposium.cshlp.org
Scanners for conventional microarrays typically have imaging spot sizes in the range of 3–5
microns, insufficient to resolve the~ 5-micron-spaced features on the randomly assembled …

The landscape of genomic imprinting across diverse adult human tissues

Y Baran, M Subramaniam, A Biton, T Tukiainen… - Genome …, 2015 - genome.cshlp.org
Genomic imprinting is an important regulatory mechanism that silences one of the parental
copies of a gene. To systematically characterize this phenomenon, we analyze tissue …

[HTML][HTML] The molecular and cellular origin of human prostate cancer

JR Packer, NJ Maitland - Biochimica et Biophysica Acta (BBA)-Molecular …, 2016 - Elsevier
Prostate cancer is the most commonly diagnosed male malignancy. Despite compelling
epidemiology, there are no definitive aetiological clues linking development to frequency …