L22 Genetic Testing Pt 2 Flashcards
ASO analysis only works for…
small number of mutations
there is a need for genetic tests that detect…
complex mutation patterns (CF, TP53)
screening for mutations requires…
high-throughput methods (we need to be able to ask a lot of questions)
DNA microarrays can test for…
mutations in a single gene
what is expected to replace most microarray technology?
whole genome, exome, and RNA sequencing
microarrays can be used for…
genome scanning and detecting SNPs
gene-expression microarrays detect…
gene-expression patterns in specific genes
gene-expression microarrays contain probes for…
specific genes thought to be expressed differently
SNPs are used for…
1) identification and forensics
2) genome-mapping for complex diseases
3) estimating predisposition to diseases
4) predict specific genetic traits
5) classifying patients in clinical trials
global screening array chip is used for…
precision medicine research
disease caused by multiple genes are harder to…
diagnose and treat (i.e. autism spectrum disorder)
sequence based knowledge of mutations will help develop…
patient-specific treatment strategies
whole exome sequencing (WES) is the sequence of…
sequence of all the exons in a genome
in WES, a patient’s exome is sequence and then…
compared to general population using bioinformatics
single-cell sequencing (SCS)
sequencing mRNA from a single cell and isolating gDNA from a single cell
SCS is valuable for…
analyzing somatic cell mutations and germ-line mutations (any cell)
SCS allows for exploration of…
genetic variations from cell to cell
RNA sequencing (RNA-seq) is
transcriptome-wide analysis of genes expressed by cells within population
single-cell RNA sequencing (scRNA-seq) is… which enables…
isolating and sequencing DNA and RNA from same cells which enables comparison of genes present in a cell
