General MAX test for complicated categorical phenotypes and genotypes

Slides:



Advertisements
Similar presentations
Need to extend idea of a gradient (df/dx) to 2D/3D functions Example: 2D scalar function h(x,y) Need “dh/dl” but dh depends on direction of dl (greatest.
Advertisements

The Ellipsoid Faculty of Applied Engineering and Urban Planning
Surface normals and principal component analysis (PCA)
ENS 207 engineering graphics
In this lesson, you will learn how to visualize the 2D cross-sections of 3D shapes Cross Section: the 2 dimensional shape that results from cutting through.
MATHEMATIC CURRICULUM ISSUES IN 6TH GRADES. 1- POINT AND LINE 2- PROPERTIES OF ADDITION AND MULTIPLICATION OPERATIONS 3- SETS 4- RESEARCH 5- FROM NUMBERS.
Projective Geometry- 3D
3D Skeletons Using Graphics Hardware Jonathan Bilodeau Chris Niski.
SolidWorks Teacher Guide Lesson9 School’s Name Teacher’s Name Date.
Technical Sketching Chapter 3. 2 Technical Drawing 13 th Edition Giesecke, Mitchell, Spencer, Hill Dygdon, Novak, Lockhart © 2009 Pearson Education, Upper.
ENGINEERING GRAPHICS 1E9
Lecture 2: Geometry vs Linear Algebra Points-Vectors and Distance-Norm Shang-Hua Teng.
Geodetic Control Network
Absolute error. absolute function absolute value.
Connecticut Core Curricula for High Schools Geometry
Calculation of MAX test P value with geometric characterization of 2x3 table tests 2010 Joint Statistical Meetings Vancouver, Canada 2010/08/05 Ryo Yamada.
Introduction : Recent progress of genetic studies in rheumatology JCR 2009 April 24, 2009 Tokyo, Japan IMS-UT Ryo Yamada.
PROJECTIONS OF SOLIDS & SECTIONS OF SOLIDS
Geometric Construction & Modeling Basics. Points A point represents a location in space or on a drawing. It has no width, height or depth. Sketch points.
G ゼミ サーイ 4・14. テクスチャー流れ制度 描いた線の通りにテクスチャーの方向が 変わります。 理由:
Ch – 27 Gauss’s Law. Symmetry A charge distribution is said to be Symmetric if the following geometric transformations cause no physical change: Translation.
11.2 Space coordinates and vectors in Space. 3 dimensional coordinate plane.
Further Applications of Green’s Theorem Ex. 2 Ex. 2) Area of a plane region -for ellipse: -in polar coordinates: Ex. 4 Ex. 4) Double integral of the Laplacian.
Descriptive Geometry. Introduction  What is Descriptive Geometry? →It is the study of points, lines, and planes in space to determine their locations.
CONIC SECTIONS ELLIPSE, PARABOLA AND HYPERBOLA ARE CALLED CONIC SECTIONS BECAUSE THESE CURVES APPEAR ON THE SURFACE OF A CONE WHEN IT IS CUT BY SOME TYPICAL.
Circles Objective: SWBAT define a circle and name its parts.
ISOMETRIC DRAWINGS LECTURE NO
THE ELEMENTS OF ART.
A graphical method of constructing the shear and normal stress tractions on any plane given two principal stresses. This only works in 2-D. Equations.
3.1 Clustering Finding a good clustering of the points is a fundamental issue in computing a representative simplicial complex. Mapper does not place any.
Copyright © Cengage Learning. All rights reserved.
Copyright © Cengage Learning. All rights reserved.
Introducing AutoCAD2013.
Vectors and the Geometry of Space
Chapter 12 Math 181.
Copyright © 2014 Pearson Education, Inc.
A geometric shape is the geometric information which remains when location, scale, orientation and reflection are removed from the description of a geometric.
AREA.
Auxiliary Views & Development
Engineering Geometry Engineering geometry is the basic geometric elements and forms used in engineering design. Engineering and technical graphics are.
Curl and Divergence.
An Optimal Dose-effect Mode Trend Test for SNP Genotype Tables
Constraint Based Modeling Geometric and Dimensional
Knowledge of quantities / calculating areas
Identify and model points, lines, and planes.
Point-a location on a plane.
17.1 Equation of a Circle How can you write the equation of a circle if you know its radius and the coordinates of its center?
Ryo Yamada(1), Takahisa Kawaguchi(2)
Vectors and the Geometry
What is the value of x2 + 3yz if x = 3, y = 6, and z = 4?
Overview of our studies
The highest vertex of a solid
Angle between two vectors
Chi-Squared (2) Analysis
Copyright © Cengage Learning. All rights reserved.
Chapter 12 Vectors and Geometry of Space
Relating the Elements of Art: Value and Texture
5.6 Surface Area of 3D Figures
Lecture 3 Map Projections
Three-Dimensional Geometry
Creating Meshes Through Functions
Lecture 2: Geometry vs Linear Algebra Points-Vectors and Distance-Norm
Statistical Genetics 統計遺伝学
SNP-pair Tetrahedron: Geometric Presentation of Haplotype Space of Pairwise SNPs Yamada R(1)(2), Okada Y(1) (1)Laboratory of Functional Genomics, Human.
Constraint Based Modeling Geometric and Dimensional
Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis  Yukinori Okada, Akari Suzuki, Katsunori Ikari, Chikashi Terao,
Evaluation of power for linkage disequilibrium mapping
Planning.
Evaluation of power for linkage disequilibrium mapping
Presentation transcript:

General MAX test for complicated categorical phenotypes and genotypes ASHG Washington D.C., USA 2010/11/02-06 Ryo Yamada, Takahisa Kawaguchi Kyoto Univ. Kyoto, Japan

2 phenotypes (Case, Control) x 3 genotypes (MM,Mm,mm) Multiple genetic models Dominant Recessive Additive

6 cells in 2x3 table are placed as 6 vectors on a plane

Tables with the same Pearson’s chi-sq value draw an ellipse contour

Tables with the same chi-sq value for 1 df test on 2x3 table draw a parallel line as a contour.

A surface normal represents the test of 1 df

Ellipse → Circle Easy handling

Parallel lines and surface normal of test of 1 df rotate Spherization

Relation between Pearson’s chi-sq and 1-df chi-sq gets simple Test Vector a b Tangent point to the smaller circle In the circular coordinate, the radius to the tangent point is perpendicular to the plane. In the coordinate with ellipse, the radius is NOT perpendicular to the tangent point.

Surface normals of three genetic models in “spherized coordinate” Test expression in table form Test expression in table form dom add rec

MAX3 test and MAX test Two sets of parallel lines with arcs make the test contours for the MAX test MAX3 MAX Arc

Complex categorical phenotypes Disease Genotype R1 R2 R3 R4 MM Mm mm total C1 + - 200 1260 1470 2930 C2 180 840 980 2000 C3 90 420 490 1000 C4 C5 270 3000 830 4200 4900 9930 Example. A disease is defined as: A disease is diagnosed when 3 or more out of 4 criteria are met. 5x3 table

Complex categorical phenotypes Genotype Stage MM Mm mm total 360 1680 2050 4090 1 270 1260 1470 3000 2 135 630 735 1500 3 90 420 490 1000 4 60 210 245 515 915 4200 4990 10105 #> O # [,1] [,2] [,3] #[1,] 20 40 20 #[2,] 1000 2000 500 #[3,] 1000 2000 500 #[4,] 100 120 120 #[5,] 50 90 30 #> Ts<-MaxTables(O) Ts<-matrix(c(1,1,0,1,1,0,1,1,0,0,0,0,1,1,0, 1,1,0,1,1,0,0,0,0,1,1,0,1,1,0, 1,1,0,0,0,0,1,1,0,1,1,0,1,1,0, 0,0,0,1,1,0,1,1,0,1,1,0,1,1,0, 1,0,0,1,0,0,1,0,0,0,0,0,1,0,0, 1,0,0,1,0,0,0,0,0,1,0,0,1,0,0, 1,0,0,0,0,0,1,0,0,1,0,0,1,0,0, 0,0,0,1,0,0,1,0,0,1,0,0,1,0,0), ncol=N*M,byrow=TRUE) Example. A disease with ordered stages: A disease is diagnosed when 3 or more out of 4 criteria are met. 5x3 table

黒がテーブル、赤は自由度=自由度 緑は自由度=1 青は観察テーブル 左は通常スケール、右は対数スケール 下が、ステージ検定 > gmtOut$PowOut[1] [1] 1.988130e-25 > > gmtOutc$PowOut[1] [1] 0 Max chi-sq = 12.745, corrected P = 0.0029

同じテーブルをMaxVectorsで > gmtOutd$PowOut[1] [1] 0.003005323

How to generalize MAX test defined for 2x3 tables, to NxM tables? Space df : 2 → (N-1)(M-1) 1-df tests Expression in NxM table should be defined. Their geometric counterparts are surface normals in df-space.

discrete MAX test continuous MAX test The model consists of the set of surface normals. Continuous MAX test The model is the area that the surface normals demarcate.

Ex. df=3 Discrete MAX test Continusous MAX test The Tips of green triangles are the surface normals for discrete model Green triangles on the surface are the area of continuous model Black dots : Observed tables Red arcs the shortest path from observed table to the model The arcs concentrate into the tips in “discrete MAX test” The arcs reaches to the edges of the model area or the tips of the area Discrete MAX test Continusous MAX test

discrete MAX test continuous MAX test

How to construct df-dimensional expression

K categories are expressed as (K-1)-simplex or K-complete graph

3 categories in a triangle 4 categories in a tetrahedron and so on

NxM vectors can be placed in df-dimensional space

Pearson’s chi-sq values draws ellipsoid contour lines, which can be spherized Expected values determine shape of ellipsoid Spherization Spherization Tables on a contour line have the same statistic value

Spherization = Eigenvalue decomposition

Spherization-based P-value estimation for general MAX test fits well with the permutation method Black : Permutation Red : Sphere method

... ... ... ... ... ...

(N-1)(M-1) component test matrices of MAX test for NxM tables

Comments and questions are wellcome → ryamada@genome.med.kyoto-u.ac.jp R code and web-based calculator of the method for 2x3 table presented are available at; http://www.genome.med.kyoto-u.ac.jp/wiki_tokyo/index.php/Estimate_of_P-value_of_MAX_for_2x3_tables Comments and questions are wellcome → ryamada@genome.med.kyoto-u.ac.jp Collaborators Graduate school of Medicine, Kyoto University, Kyoto, Japan Takahisa Kawaguchi Katsura Hirosawa Meiko Takahashi Fumihiko Matsuda Lab for Autoimmune Diseases, CGM, RIKEN, Yokohama, Japan Yukinori Okada Yuta Kochi Akari Suzuki Kazuhiko Yamamoto