1.%20Intro%20and%20variation%202011

1.%20Intro%20and%20variation%202011 - Biology 177-370B:...

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Biology 177-370B: Human Genetics Applied Roberta Palmour, Coordinator roberta.palmour@mcgill.ca Administrative questions to this address Paperwork can be delivered to: Stewart N5/13 TA: Rob Gillis rob.gillis@mail.mcgill.ca
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Biology 177-370B: Human Genetics Applied Lecture notes will be posted on web.ct, as pdf files or 4th edition Reserves, if necessary: Blacker-Wood Original literature by pdf
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Grading options • Option 1: Lecture only – Mid-term exam 25% – Topic paper 25% – Final exam 50% • Option 2: Lecture + conference – Exams + paper 85% • Mid-term, paper = 21.25% each • Final = 42.5% – Conference participation 15%
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Before we start… • Introduction to internet resources 1. NCBI website ( www. ncbi . nlm . nih . gov ) is portal to PubMed (literature searches), OMIM (phenotype data), GenBank (info on specific genes), etc 2. genome databses: http://genome.ucsc. edu ; ebi.ac.uk (includes links to Ensemble, WormBase, FlyBase, many more) 3. Proteins: http://ca. expasy .org 4. Amazing resources on Google, Wikipedia
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Overview • Today’s lecture will cover: –What background you need for this course –Basic concepts • Variation • Segregation • Distribution of variation in human populations
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Overview • Other topics in the introductory section: • Expressed variation: protein polymorphisms • Variation at the level of DNA • The relationship of variation to phenotype • Practical utility of variation in medicine, the law and the workplace
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Variation is the basis of all genetics!
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genetics! • Individual variation
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1.%20Intro%20and%20variation%202011 - Biology 177-370B:...

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