United States Patent and Trademark Office IPC Advanced Level Subcommittee Topic: A010 Date: 30 April 2009 Introduction: United States (US) thanks the Rapporteur for the Definitions Proposal. It was noted by US that there are minor differences between the proposal and the contents of the Harmony Visit Report. US can agree with the majority of the definitions proposal with the exception of the following. Exceptions 1. It would appear the Glossary terms should be alphabetized and associated with the new Main Group rather than being listed in relation to the proposed subgroups. 2. In the schema definition of subgroup 19/16, the words "drug targeting" are NOT used, however "drug targeting" is present in the glossary for 19/16. 3. The schema definition of subgroup 19/18 should include "linkage disequilibrium" or "population genetics" which are at least as important as "genotyping". 4. US would like to offer the following amendments for the definition of "genotyping": Genotyping - processes of determining the genotype (i.e., the genetic constitution) of an individual, or an organism by the use of biological assays. And "genotype" Genotype - The genetic constitution of an organism with respect to a trait. 5. “Linkage disequilibrium" Linkage Disequilibrium - The probability in which two or more than two alleles present together in one chromosome is greater than the probability in which they are present randomly Or: Linkage Disequilibrium - The tendency of alleles located close to each other on the same chromosome to be inherited together. 1 6. Population Genetics Population Genetics – The mathematical and biological discipline of evaluating the numerical progress of the relative frequency of various genes and alleles in a population of interbreeding organisms. Or: Population Genetics - The study of the allele frequency distribution and change under the influence of the four evolutionary processes: natural selection, genetic drift, mutation and gene flow. 7. Other Annotations by US on Excerpts of the Rapporteur Definitions Proposal Title - G06F19/10 Bioinformatics Definition statement This main group covers: methods and systems for genetic or protein-related data processing in computational molecular biology, bioinformatics methods or systems where digital data processing is inherent or implicit, but not explicitly mentioned, and in this main group, "systems" include apparatus. Special rules of classification within this main group In this main group, at each hierarchical level, in the absence of an indication to the contrary, classification is made in the first appropriate place. Limiting references In silico methods of creating virtual chemical libraries C40B50/02 In silico methods of screening virtual chemical libraries C40B30/02 2 Informative references Attention is drawn to the following places, which may be of interest for search: US can also agree with the comments provided by DE in Annex 8. Title - G06F19/12 For modelling or simulation in systems biology Definition statement This subgroup covers: Documents involving simulation and mathematical modelling of relationships and interactions between molecular entities on a subcellular level, integrating genetic and/or protein-related data to describe the dynamic behaviour of protein-protein/protein-ligand interactions, regulatory or metabolic networks. Mere mention of modelling or simulation is not sufficient to classify in this subgroup. In such cases, see lower subgroups. Title - G06F19/18 For functional genomics or proteomics This subgroup covers: Documents involving assessing the function of genes, and proteins in determining traits, physiology and/or development of an organism, making use of computational and large scale, high-throughput technologies. This subgroup includes documents involving genotypicphenotypic associations. This includes genotyping and genome annotation, linkage disequilibrium analysis and association studies, population genetics, alternative splicing and Short Interfering RNA design (siRNA, RNAi). This subgroup also covers binding site identification, mutagenesis analysis, protein-protein or protein-nucleic acid interactions. Mere mention of genetic or protein function is not sufficient to classify in this subgroup. In such cases, see lower subgroups. Title - G06F19/24 3 For machine learning, data mining or biostatistics This subgroup covers: Documents involving discovery and analysis of patterns within a vast amount of genetic or protein-related data, wherein the emphasis is placed on the method of analysis and is largely independent of the type of bioinformatic data. Covered methods include bioinformatic pattern finding, knowledge discovery, rule extraction, correlation, clustering and classification. This subgroup also includes multivariate analysis of protein or gene-related data [e.g. analysis of variances (ANOVA), principal component analysis (PCA), support vector machines (SVM)]. 4 Title - G06F19/26 For data visualisation This subgroup covers: Documents involving visual representations specifically adapted to bioinformatic data, wherein the emphasis is placed on the method of visualisation and is largely independent of the type of bioinformatic data. Visualisation of bioinformatic data specifically includes, for example graphics generation, map display and network display. 5 Glossary Note: Glossary definitions are formulated in the context of bioinformatics. Methods and calculation processes are carried out using computer programs. G06F19/12 Systems biology simulation and mathematical modelling of relationships and interactions between molecular entities in subcellular systems integrating genetic and/or protein-related data to describe the dynamic behaviour of, for example, protein-protein/protein-ligand interactions, regulatory networks and metabolic networks. 6