This class was created by Brainscape user Pelumi Akeroro.

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Decks in this class (7)

Deck_1_Genome_Organisation_and_Stability
What are the two main components ...,
How does euchromatin differ from ...,
What is constitutive heterochroma...
29  cards
Deck_2_Gene_Regulation_Transcriptome_to_Proteome
Questions on: ncRNAs (miRNA, siRNA, lncRNA) Dysregulated translation (e.g. Alzheimer’s / BACE1-AS) Transcriptome vs proteome comparisons
29  cards
Deck_3_Meiosis_Recombination_and_Aneuploidy
Covers: Meiosis I vs II (reductional vs equational) Homologues, sister chromatids, bivalents Synapsis, crossing over, chiasmata Cohesin, shugoshin, stepwise cohesion loss Recombination, linkage, map distance Nondisjunction, PSSC, aneuploidy
33  cards
Deck_4_Genetic_Variation_and_Mutation_Mechanisms
Covers: Types of mutations (point, indel, frameshift) Endogenous vs exogenous DNA damage DNA repair pathways (BER, NER, MMR, NHEJ, HDR) Mutation consequences (silent, missense, nonsense) Allele types (loss-of-function, dominant negative, etc.)
29  cards
Deck_5_Modes_of_Inheritance_and_Population_Genetics
Covers: Mendelian inheritance patterns Hardy–Weinberg equilibrium and applications Penetrance, expressivity, mosaicism X-linked, autosomal, mitochondrial inheritance Complicating factors (imprinting, anticipation, consanguinity)
28  cards
Deck_6_Identifying_Disease_Genes_Monogenic_and_Polygenic
Covers: Genetic markers (SNPs, STRs, RFLPs) Linkage analysis and LOD scores Positional cloning and autozygosity mapping Exome sequencing Polygenic traits, heritability, GWAS Risk prediction and limitations
30  cards
Deck_7_Cancer_Genetics_Therapy_and_Testing
Covers: Somatic vs germline mutations Oncogenes vs tumour suppressors Genome instability and cancer evolution Genetic therapy strategies Pharmacogenetics Genetic testing methods and ethics (ACCE)
31  cards

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Human Genetics and Genomics

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