In the human genome, the most common types of markers are SNPs, STRs, and indels. SNPs affect only one of the basic building blocks—adenine(A),guanine(G),thymine(T), orcytosine(C)—in aDNAsegment. For example, at a genomic location with the sequence ACCTGA in most individuals, some...
Mapping of variable DNA methylation across multiple cell types defines a dynamic regulatory landscape of the human genome. G3 (Bethesda) 6, 973-986. doi... Junchen,Gu,Michael,... - G3 (Bethesda, Md.) 被引量: 12发表: 2016年 The long-range interaction landscape of gene promoters The vas...
Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatmentsThe functional interpretation of genome-wide association studies (GWAS) is challenging due to the cell-type-dependent influences of genetic variants. Here, we generated ...
Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present a method named Multimodal Annotation Generated Pathogenic Impact Evaluator (MAGPIE) that predicts the pathogenicity of multi-type variants. MAG
Genome Medicine volume 15, Article number: 91 (2023) Cite this article 10k Accesses 8 Citations Metrics details Abstract Background The advancement of single-cell sequencing has progressed our ability to solve biological questions. Cell type annotation is of vital importance to this process, ...
Due to the increased accuracy of Copy Number Variable region (CNV) break point mapping, it is now possible to say with a reasonable degree of confidence whether a gene (i) falls entirely within a CNV; (ii) overlaps the CNV or (iii) actually contains the CNV. We classify these as type...
et al. scRNA-seq assessment of the human lung, spleen, and esophagus tissue stability after cold preservation. Genome Biol. 21, 1 (2019). Article CAS PubMed PubMed Central Google Scholar Pack, M. et al. DEC-205/CD205+ dendritic cells are abundant in the white pulp of the human ...
Quantitative trait loci analysis of zinc efficiency and grain zinc concentration in wheat using whole genome average interval mapping Zinc (Zn) deficiency is a widespread problem which reduces yield and grain nutritive value in many cereal growing regions of the world. While there is cons... Y Ge...
Single-base resolution quantitative genome methylation analysis in the model bacterium Helicobacter pylori by enzymatic methyl sequencing (EM-Seq) reveals influence of strain, growth phase, and methyl homeostasis Lubna Patel Florent Ailloud Christine Josenhans ...
all known genes in the analyzed genome or all the genes from a popular gene expression chip. Datasets can be created with varying size of gene lists, with varying level of over-representation signal and with varying number of independent signal classes. To compensate the larger overall signal, ...