Results 11 to 20 of about 2,122,472 (401)
Annual Review of Genomics and Human Genetics, 2009 Genotype imputation is now an essential tool in the analysis of genome-wide association scans. This technique allows geneticists to accurately evaluate the evidence for association at genetic markers that are not directly genotyped. Genotype imputation is particularly useful for combining results across studies that rely on different genotyping ...
Yun Li +3 more
openaire +3 more sources
IEEE Transactions on Information Theory, 2010 Significant volumes of knowledge have been accumulated in recent years linking subtle genetic variations to a wide variety of medical disorders from Cystic Fibrosis to mental retardation. Nevertheless, there are still great challenges in applying this knowledge routinely in the clinic, largely due to the relatively tedious and expensive process of DNA ...
Partha P. Mitra +4 more
openaire +3 more sources
ON THE FINDABILITY OF GENOTYPES [PDF]
Evolution, 2013 Can we define a measure that describes how easy or difficult it is for a population to evolve to a specific genotype? For populations evolving under weak mutation on a time-invariant fitness landscape, I argue that one appropriate measure is the expected waiting time, starting from equilibrium, for a population to become fixed for a given genotype ...
David M. McCandlish, David M. McCandlish
openaire +3 more sources
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022 Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han +5 more
wiley +1 more source
The effects of Tbx15 and Pax1 on facial and other physical morphology in mice
FASEB BioAdvances, 2021 DNA variants in or close to the human TBX15 and PAX1 genes have been repeatedly associated with facial morphology in independent genome‐wide association studies, while their functional roles in determining facial morphology remain to be understood.
Yu Qian +5 more
doaj +1 more source
Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022 Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh +5 more
wiley +1 more source
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source