Genomics Techniques and Genetic Disorders

Flashcards summarizing key concepts in genomics, including GWAS, genetic techniques, and genomic imprinting related to specific genetic disorders.

What is the definition of GWAS (Genome-Wide Association Study)?

GWAS looks for associations between genetic variants (SNPs) and traits/diseases across the genome.

What are the steps involved in GWAS?

1. Collect DNA from those with and without the trait/disease. 2. Genotype individuals at genetic variants (SNPs). 3. Compare variant frequency.

What is the outcome of conducting a GWAS?

Identifies genetic loci associated with the trait/disease, aiding understanding of genetic predisposition.

What are the key techniques in genomics used to analyze genetic and epigenetic changes?

1. GWAS: Links genetic variants to traits/diseases. 2. ATAC-seq: Identifies open chromatin. 3. ChIP: Detects protein-DNA interactions. 4. MeDIP: Enriches for methylated DNA.

What is genomic imprinting?

Genomic imprinting is when certain genes are expressed in a parent-of-origin-specific manner.

How is genomic imprinting related to Angelman and Prader-Willi syndromes?

Angelman Syndrome: Deletion of maternal UBE3A allele. Prader-Willi Syndrome: Deletion of paternal allele