PPT-Are My Genes Mutated? Analyzing Loss of Function Variants in the Human Genome

Group A1 Caroline Kissel Meg Sabourin Kaylee Isaacs Alex Maeder Introduction Mutations that occur in DNA synthesis can result in a mutated gene that deters or completely denatures the protein it codes for . Stefano . Lise. Bioinformatics & Statistical Genetics (BSG) Core. The . Wellcome. Trust Centre for Human Genetics (WTCHG), Oxford. Email: stefano@well.ox.ac.uk. Outline. Human genetic variation in health and disease. Chapter 21. You must know. How prokaryotic genomes compare to eukaryotic genomes.. Applications of bioinformatics to medicine, evolution, and health.. The activity and role of transposable elements and retrotransposons in generating genetic diversity.. (B) . Amplification and detection . of DNA . sequences. . (A) Sequencing DNA. DNA. Human Genomics . (A). State what the Human Genome Project involved. State what is meant by ‘bioinformatics’. State 2 benefits of using computer technology. Christopher Desjardins, Ph.D.. Earl Lab. Broad Institute. Outline. Genomics Terminology. Assemblies vs. Variants. Assembly-based analyses. Orthology. Variant-based analyses. How to choose?. Basic Genomics Terminology. Exome. sequencing identifies the cause of a . Mendelian. disorder.. Nat. Genet. 42, 30–35 (2010).. Cupped ears. coloboma. of the lower eyelids, . prominent . nose, . micrognathia. . absence . of the fifth digits of the feet. Genome: the total number of genes in an individual.. Human Genome- approx. 20,000 genes on the 46 human chromosomes.. Human Genome Project (HGP). Ongoing effort to completely map and sequence our genome.. Outline. What is a “reference genome. ?”. History and examples of . reference-building. When is a reference genome useful. ?. Reference genome assemblies: definition. Database of ordered nucleotides. Evolution occurs through a set of modifications to the DNA. These modifications include point mutations, insertions, deletions, and rearrangements. Seemingly diverse species (say mice and humans) share significant similarity (80-90%) in their genes. . In the paper, researchers describe the final product of the Human Genome Project, which was the 13year effort to read the information encoded in the human chromosomes that reached its culmination i INT. J. DIAB. DEV. COUNTRIES (2000), VOL. 20 147Proteinomics Attempts are on to identify the exact three -dimensional structures of nearly 10,000, biologically important, proteins. These are the logic (HGP) is an international scientific research . project. with the goal of determining the sequence of chemical base pairs which make up . human. DNA, and of identifying and mapping all of the genes of the . from NHGRI’s . Planning . Workshop on the Future Opportunities . for . Genome Sequencing . & Beyond. Mark Gerstein & Rick Myers. Recommendations related to genome function. . Part 1: Workshop summary (Mark). However, genomes are large and complex and visualizing this information is not easy. You need to imagine that the raw annotation information, by itself, can be contained in a text file, which could include positional information (coordinates relative to the reference genome) and different features (e.g. annotation type – gene, mRNA, intron/exon, variant, UTR, etc.). gnomAD. ). Konrad Karczewski. March 4, 2019. @konradjk. broad.io/gnomad_lof. Identifying true . LoF. variants is challenging. LoFs. are rare. LoFs. are enriched for artifacts. Identifying true . LoF.