Polymorphism, Single NucleotideSex ChromosomesMosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these mechanisms in terms of (i) impact on embryonic development; (ii) co-occurrence of mosaic trisomy and UPD and (iii) ...
Polymorphism, Single NucleotideThere are many known examples of multiple semi-independent associations at individual loci; such associations might arise either ... G Ehret,D Lamparter,C Hoggart,... - 《American Journal of Human Genetics》 被引量: 107发表: 2012年 Modeling of heteroduplex formation...
Specifically, we trained models to predict gene expression from single nucleotide polymorphism genotypes51 using whole-brain bulk RNA-seq from 339 naive HS rats, and estimated the fraction of variance in expression that was explained by cis-genetic variation (r2). We used the trained models to ...
A mosaic such as 45,X[50]/46,X,i(X)(p11.3)[50] would appear similar to 46,X,del(X)(p11.3) in the array data but could be distinguished from the deletion by combined analysis of BAFs and LRRs. SNP, single-nucleotide polymorphism; TS, Turner syndrome. Genetics in medicine | ...
To explore the origins of these outbreaks, we conducted a comprehensive genomic analysis using data from genomic single nucleotide polymorphism sites (SNPs) and mitochondrial haplotypes. Our analysis reveals that CoTS populations in the SCS, which exhibit moderate genetic diversity and may have undergone...
Single nucleotide polymorphism (SNP), a common form of genetic variation, is caused by the transition, transversion, insertion, or deletion of individual bases. Expression quantitative trait loci (eQTL) analysis can profile genetic variations (especially SNP) that affect gene expression, offering enhan...
Single nucleotide polymorphism (SNP), a common form of genetic variation, is caused by the transition, transversion, insertion, or deletion of individual bases. Expression quantitative trait loci (eQTL) analysis can profile genetic variations (especially SNP) that affect gene expression, offering enhan...
The 12 sites exhibited polymorphism within the wild-type cat sample set (Table 2). All of the nucleotide states present at these sites in dilute cats were well represented in the wild-type population as well. One wild-type individual demonstrated the SNP haplotype associated with dilute, with ...
To characterize the genetic landscape ofTP53-sAML, we analyzed 33TP53-sAML patients (Supplementary Table1) through bulk-level targeted next-generation sequencing and single nucleotide polymorphism (SNP) array (Extended Data Fig.1). We detected MPN-driver mutations (JAK2andCALR) in 28 patients (85...
Shifman, S. et al. A high-resolution single nucleotide polymorphism genetic map of the mouse genome. Smeds, L., Mugal, C. F., Qvarnstrom, A. & Ellegren, H. High-resolution mapping of crossover and non-crossover recombination events by whole-genome re-sequencing of an avian pedigree...