To study associations between genetic variants and morphological traits, we assembled a cohort of iPSC lines from 297 unique donors for which we generated image-based profiling and whole-genome sequencing data (Fig.1). We obtained pre-derived cell lines from the CIRM iPSC repository5. Age, sex,...
Discoveries in human genetic studies have revolutionized our understanding of complex rheumatic and autoimmune diseases, including the identification of hundreds of genetic loci and single nucleotide polymorphisms that potentially predispose individuals to disease. However, in most cases, the exact disease-cau...
1a, b) and that innate mutation rates based on trinucleotide context significantly correlated with mutation frequencies for several genes (Supplementary Information). We next quantified amino acid conservation over homologous proteins, a proxy for functional phenotype (Fig. 1c), and in silico-predicted...
Define the terms diverticulosis and diverticulitis. Define the term Polygenic. Define the following term and give an example: Genotype. Define or describe the following term: Tendon. Describe the terms osteoporosis, osteomalacia, and rheumatoid arthritis. ...
Correlations between genotype and phenotype of ICF patients are emerging[11], and the defining of a reliable ICF-specific molecular signatures will help to explain such differences in the clinical manifestations of ICF syndrome amongst ICF patient subtypes. In addition to providing a new contribution...
Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.doi:10.1016/j.ajhg.2021.01.007Joery den HoedElke de BoerNorine VoisinAlexander J.M. Dingemans...
Full genotypic characterization of subjects affected by cystic fibrosis (CF) is essential for the definition of the genotype鈥損henotype correlation as wel... M Lucarelli,L Narzi,R Piergentili,... - 《Analytical Biochemistry》 被引量: 97发表: 2006年 Correlation of the cell phenotype of cultur...
Correlations between genotype and phenotype of ICF patients are emerging[11], and the defining of a reliable ICF-specific molecular signatures will help to explain such differences in the clinical manifestations of ICF syndrome amongst ICF patient subtypes. In addition to providing a new contribution...
What determines an organism?s phenotype? What is a duplication mutation? What are genetic imprinting mutations? What determines the genotype of an organism?Explore our homework questions and answers library Search Browse Browse by subject Ask a Homework Question Tutors available × Our tutors are ...
Summary of transcriptome and proteome analysis pipeline. For all experiments, parental virulent (VIR; genotype N116) and avirulent (AVR; genotype PS01) aphids were compared. Head transcriptomes of parental aphids were compared on resistant and susceptible host plants that carried or lacked theRAP1ap...