9 research outputs found
Searching myKaryoView by SNP.
<p>The rs10993994 SNP was identified in a 23andMe report to contribute most to the disease risk of prostate cancer in a customer, implicated by the MSMB gene. In addition to the customer, 4 additional members of his family uploaded their genotypes into myKaryoView for elucidation of how this particular SNP genotype was inherited. Popup windows for the SNP are shown in this order: son, mother, father and sister. The Type Id field shows their genotype for this position in their genome, TT, CT, CT, CT respectively. The aunt (not shown) has a CC genotype for this position.</p
Chromosome Location Search.
<p>Searching 15∶20000000,24000000 displays part of the 15q11 chromosomal band in zoom view. All listed DAS sources (gene names, genes involved in disease, cancer mutations and variable regions) were selected, choosing zoom and track visualisation options. The total number of features per track is shown next to the legend in parentheses. Forty five genes lie in selected intervals. Clicking on the ‘Genes Involved in Disease’ legend, a popup window appears providing links to the region in Ensembl and the original raw data that can be easily cut and pasted. The UBE3A gene bar is clicked and another popup window appears with links to further information. Variation 7051 reported by DGV is also clicked.</p
Additional file 4: Table S3. of Systematic identification of phenotypically enriched loci using a patient network of genomic disorders
Relationship between Phenotypically enriched loci (PELs) and genomic disorders used from ClinVar, OMIM phenotypes caused by likely pathogenic and pathogenic CNVs from ClinVar. (XLSX 64 kb
Additional file 3: Table S2. of Systematic identification of phenotypically enriched loci using a patient network of genomic disorders
Phenotypically enriched loci (PELs) after the enrichment analysis (hypergeometric test, P-values <0.05.) and case–control analysis (Fisher's exact test, P-values <0.05). (XLSX 269 kb
Governance structure.
<p>The operational board comprises the executive board and committee chairs. The general constituency includes representatives of member organisations, and individuals.</p
Additional file 3: Supplemental dataset S1. of Genome sequencing of the staple food crop white Guinea yam enables the development of a molecular marker for sex determination
List of the 26,198 protein coding genes predicted in the D. rotundata genome. (XLSX 1480 kb
Additional file 2: Figures S1âS22. of Genome sequencing of the staple food crop white Guinea yam enables the development of a molecular marker for sex determination
Supplementary figures including a summary of world yam production and photos of yam markets in West Africa (Figure S1), summary of BAC-end sequencing used for genome scaffolding (Figure S2), summary of k-mer analysis of Guinea yam genome (Figure S3), flowchart of Guinea yam genome assembly (Figure S4), summary of Guinea yam mitochondrial genome (Figure S5), flowchart of RAD-seq for linkage analysis (Figure S6), summary of RAD-seq analysis (Figure S7), summary of RAD-seq DNA markers used for linkage mapping and anchoring of scaffolds (Figure S8), procedure of linkage analysis and split of scaffolds depending on recombination fraction between RAD markers (Figure S9), RAD-seq-based linkage maps of D. rotundata generated by pseudo-testcross method (Figure S10), a matrix showing scaffolds shared between two linkage groups generated for two parents (Figure S11), schematic diagram for developing physical map of D. rotundata (Figure S12), frequency of distances of BAC-end sequences in the genome (Figure S13), scheme showing pipeline of genome annotation of D. rotundata (Figure S14), self-self syntenic dot plot of D. rotundata pseudo-chromosomes (Figure S15), SyMAP dot plot analysis of whole genome synteny between three monocot species (Figure S16), explanation of QTL-seq analysis to identify sex-linked genome regions in D. rotundata (Figure S17), QTL-seq results (Figure S18), sp1 DNA marker genotypes of F1 progeny and their association with sex (Figure S19), explanation of method for identification of putative W-region of D. rotundata genome (Figure S20), identification of female- and male-specific genomic regions (Figure S21), method of calculation of confidence interval of QTL-seq analysis (Figure S22). (PPTX 15700 kb