essentialmedgen.com
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Links to databases & analysis tools +
Clinical information
Directories of gene testing labs
Patient support directories
Genome browsers & scientific information re genes and proteins
Tools for DNA & protein sequence analysis
Mutations and SNPs
Websites useful when designing primers
Analysis of functional signficance of missense mutations
Computer-aided syndrome diagnosis
Genetics societies
Human genomics: ethics and education
Other links
Updates & additional information +
How "silent" mutations may not be silent
Fragile X premutations: pathogenic mechanism
The 3D arrangement of the genome in TADs
Pharmacogenetic testing prior to prescribing anti-epileptics
Tumour mutations: large scale analysis using protein networks. Nov. 2013
Tutorials +
Tutorial - genetic anticipation
Tutorial - pseudoautosomal inheritance
Tutorial - pseudodominant inheritance
Tutorial - X-linked dominant inheritance
Extra self-assessment questions +
Q.001 Mitochondrial inheritance
Q.002 Preimplantation genetic diagnosis
Q.003 Multifactorial disease
Q.004 Genetics landmarks
Q.005 Genome properties
Q.006 Mutation nomenclature
Q.007 Microdeletion detection
Q.008 Polyposis
Q.009 Tumour suppressor genes
Q.010 Breast cancer predisposition
Q.011 Dementia genetics
Q.012 Diabetes mellitus genes
More will be added shortly
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What proportion of the human nuclear genome codes for proteins?
A. 97-99%
B. 90-93%
C. 21-23%
D. 11-13%
E. 1-3%
Scroll down to view answer.
Answer: E. See chapter 2 of Essential Medical Genetics 6th edition for further explanations.
