User profiles for "author:Christoffer Nellåker"
Christoffer NellåkerOxford University Verified email at wrh.ox.ac.uk Cited by 4761 |
[HTML][HTML] Mouse genomic variation and its effect on phenotypes and gene regulation
We report genome sequences of 17 inbred strains of laboratory mice and identify almost ten
times more variants than previously known. We use these genomes to explore the …
times more variants than previously known. We use these genomes to explore the …
[PDF][PDF] The RNA-editing enzyme ADAR1 controls innate immune responses to RNA
NM Mannion, SM Greenwood, R Young, S Cox… - Cell reports, 2014 - cell.com
The ADAR RNA-editing enzymes deaminate adenosine bases to inosines in cellular RNAs.
Aberrant interferon expression occurs in patients in whom ADAR1 mutations cause Aicardi …
Aberrant interferon expression occurs in patients in whom ADAR1 mutations cause Aicardi …
Sequence-based characterization of structural variation in the mouse genome
Structural variation is widespread in mammalian genomes, and is an important cause of
disease, but just how abundant and important structural variants (SVs) are in shaping …
disease, but just how abundant and important structural variants (SVs) are in shaping …
Turning a blind eye: Explicit removal of biases and variation from deep neural network embeddings
Neural networks achieve the state-of-the-art in image classification tasks. However, they can
encode spurious variations or biases that may be present in the training data. For example …
encode spurious variations or biases that may be present in the training data. For example …
Diagnostically relevant facial gestalt information from ordinary photos
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing
genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare …
genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare …
[HTML][HTML] The genomic landscape shaped by selection on transposable elements across 18 mouse strains
Background Transposable element (TE)-derived sequence dominates the landscape of
mammalian genomes and can modulate gene function by dysregulating transcription and …
mammalian genomes and can modulate gene function by dysregulating transcription and …
[HTML][HTML] High levels of RNA-editing site conservation amongst 15 laboratory mouse strains
P Danecek, C Nellåker, RE McIntyre… - Genome biology, 2012 - Springer
Background Adenosine-to-inosine (A-to-I) editing is a site-selective post-transcriptional
alteration of double-stranded RNA by ADAR deaminases that is crucial for homeostasis and …
alteration of double-stranded RNA by ADAR deaminases that is crucial for homeostasis and …
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …
facial appearance, intellectual disability and growth failure as prominent features. Most …
[HTML][HTML] Transactivation of elements in the human endogenous retrovirus W family by viral infection
C Nellåker, Y Yao, L Jones-Brando, F Mallet… - Retrovirology, 2006 - Springer
Background Aberrant expression of human endogenous retrovirus (HERV) elements in the
W family has previously been associated with schizophrenia, multiple sclerosis and …
W family has previously been associated with schizophrenia, multiple sclerosis and …
Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification
Y Yao, C Nellåker, H Karlsson - Molecular and cellular probes, 2006 - Elsevier
Real-time PCR assays using 3′-minor groove binder (MGB) or Taqman probes are widely
used for clinical virological testing and mutation/polymorphism detection. We compared a …
used for clinical virological testing and mutation/polymorphism detection. We compared a …