Clinical sequencing: from raw data to diagnosis with lifetime value
SM Caspar, N Dubacher, AM Kopps… - Clinical …, 2018 - Wiley Online Library
High‐throughput sequencing (HTS) has revolutionized genetics by enabling the detection of
sequence variants at hitherto unprecedented large scale. Despite these advances, however …
sequence variants at hitherto unprecedented large scale. Despite these advances, however …
Monoallelic gene expression in mammals
A Chess - Annual Review of Genetics, 2016 - annualreviews.org
Monoallelic expression not due to cis-regulatory sequence polymorphism poses an
intriguing problem in epigenetics because it requires the unequal treatment of two segments …
intriguing problem in epigenetics because it requires the unequal treatment of two segments …
Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function
Autoinflammatory disease can result from monogenic errors of immunity. We describe a
patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of …
patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of …
Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy
DT Pederick, KL Richards, SG Piltz, R Kumar… - Neuron, 2018 - cell.com
X-linked diseases typically exhibit more severe phenotypes in males than females. In
contrast, protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but …
contrast, protocadherin 19 (PCDH19) mutations cause epilepsy in heterozygous females but …
Analysis of allelic expression patterns in clonal somatic cells by single-cell RNA–seq
Cellular heterogeneity can emerge from the expression of only one parental allele.
However, it has remained controversial whether, or to what degree, random monoallelic …
However, it has remained controversial whether, or to what degree, random monoallelic …
[HTML][HTML] Functional effects of protein variants
M Vihinen - Biochimie, 2021 - Elsevier
Genetic and other variations frequently affect protein functions. Scientific articles can contain
confusing descriptions about which function or property is affected, and in many cases the …
confusing descriptions about which function or property is affected, and in many cases the …
The 2016 database issue of Nucleic Acids Research and an updated molecular biology database collection
DJ Rigden, XM Fernández-Suárez… - Nucleic acids …, 2016 - academic.oup.com
Abstract The 2016 Database Issue of Nucleic Acids Research starts with overviews of the
resources provided by three major bioinformatics centers, the US National Center for …
resources provided by three major bioinformatics centers, the US National Center for …
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage
One fundamental but understudied mechanism of gene regulation in disease is allele-
specific expression (ASE), the preferential expression of one allele. We leveraged RNA …
specific expression (ASE), the preferential expression of one allele. We leveraged RNA …
Introns control stochastic allele expression bias
B Sands, S Yun, AR Mendenhall - Nature Communications, 2021 - nature.com
Monoallelic expression (MAE) or extreme allele bias can account for incomplete penetrance,
missing heritability and non-Mendelian diseases. In cancer, MAE is associated with shorter …
missing heritability and non-Mendelian diseases. In cancer, MAE is associated with shorter …
Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism
C Göppner, IJ Orozco, MB Hoegg-Beiler… - Nature …, 2019 - nature.com
Human primary aldosteronism (PA) can be caused by mutations in several ion channel
genes but mouse models replicating this condition are lacking. We now show that almost all …
genes but mouse models replicating this condition are lacking. We now show that almost all …