プレゼンテーション演習

平成26年8月5日にお茶の水女子大学で行われた「三大学連携 機関リポジトリ研修会」におけるプレゼンテーション資

Additional file 15: Figure S8. of Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies

Single-cell sequencing of (near)-4n cells in T158 and T257. a PI/Hoechst FACS plots showing for four tumours, showing apparent cycling tetraploid cells in T158 and T257. b Comparison of AneuFinder copy number calling of T158; comparing the fit when forcing AneuFinder to call the majority state tetrasomy (left) or disomy (right). c Comparison of AneuFinder copy number calling of T257; comparing the fit when forcing AneuFinder to call the majority state tetrasomy (left) or disomy (right). (PDF 4660 kb

Additional file 7: Figure S4. of Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies

Examples of discordant copy number calls between AneuFinder and Ginkgo. Top panels show the AneuFinder profiles, bottom panels show the Ginkgo profiles, respectively. a Low quality library showing a highly segmented fit with AneuFinder. b Wrongly chosen ploidy state with Ginkgo. c Red boxes indicate chromosomes with unusually high read count dispersion where AneuFinder fails to assign a clear copy number state. d Small copy number change that is detected with AneuFinder but not with Ginkgo. (PDF 2236 kb

Additional file 1: Figure S1. of Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies

Additional comparisons of aCGH and exome-sequencing analyses of T-ALLs driven by Mps1 and p53 mutation. Six additional T-ALLs analysed using array CGH, compared to a euploid reference, showing recurrent gains of predominantly chromosomes 4, 9, 14 and 15, and other lymphoma-specific alterations. (PDF 23139 kb

Additional file 10: Figure S7. of Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies

Aneuploidy and heterogeneity per chromosome observed in a control thymus and T-ALLs. Aneuploidy and heterogeneity scores plotted per chromosomes of all T-ALLs examined in the study. Chromosomes indicated in green do not favour copy number change and show minimal heterogeneity. Chromosomes in blue show apparent random copy number changes. Red chromosomes favour copy number changes. (PDF 440 kb

Recurrent missense variants identified in two of 289 candidate genes in 12 sporadic CD subtype of AMD cases by WES.

<p>Recurrent missense variants identified in two of 289 candidate genes in 12 sporadic CD subtype of AMD cases by WES.</p

Retinal images of 12 sporadic cuticular drusen (CD) cases for whom exome sequencing (WES) was performed.

<p>Panels A and B represent colour fundus photographs (1A-12A) and fluorescein angiograms (FAs) (1B-12B) of 12 cases respectively. For cases 1–5 retinal images of the right eye are shown, whereas for cases 6–12 retinal images of the left eye are shown. The CD phenotype presents with a large number of small and uniformly sized hyperfluorescent drusen on FA.</p

Segregation analysis of rare sequence variants identified in candidate genes in cuticular drusen (CD) families by whole exome sequencing (WES).

<p>Circles, females; squares, males; empty symbols, unaffected; black symbols, affected; asterisks, exome sequenced individuals; ‘+’ symbol, wild type allele; ‘m’ symbol, mutant type allele. The age at participation is specified below the symbols.</p

Pedigrees of six cuticular drusen (CD) families in which whole exome sequencing (WES) was performed.

<p>Circle and square symbols indicate female and male individuals, respectively. Symbols with slashes indicate deceased individuals. Black and empty symbols indicate affected and unaffected individuals, respectively. Asterisks indicate the family members for whom exome sequencing was performed. The numbers below the symbols indicate the age at participation of family members.</p

Rare missense variants identified in known macular degeneration genes in 12 sporadic CD subtype of AMD cases by WES.

<p>Rare missense variants identified in known macular degeneration genes in 12 sporadic CD subtype of AMD cases by WES.</p