What is the primary purpose of array-based technologies in genetics?
To analyse copy number variations (CNV) across many genomic regions simultaneously in a high-throughput manner.
A key advantage of SNP arrays is that they provide a _____ analysis of the genetic material.
genome-wide
SNP arrays can detect high-resolution copy number variants, with the resolution depending on what factor?
The probe design on the microarray chip.
One advantage of SNP arrays is their ability to detect DNA _____ and _____.
gains, losses
SNP arrays are limited in their ability to detect genetic variations present at very low frequencies, a condition known as _____.
low level mosaics
A limitation of SNP arrays is that they cannot detect _____ SNP mutations.
unknown
In NGS methodology, what is attached to fragmented DNA before amplification and sequencing?
Platform-specific adapters.
What is the typical read length for short-read NGS?
Between 50 and 300 base pairs (bp).
Long-read sequencing, a type of NGS, typically generates reads longer than what length?
Greater than 10,000 base pairs (10kb).
WGS is advantageous for its ability to detect a wide range of variation, from _____ to small structural rearrangements.
point mutations
WGS records variants in coding regions as well as which two other types of regions?
Non-coding and regulatory regions.
What is a major research application advantage of WGS?
It can be used to identify novel causes of genetic disease.
WGS faces technical difficulties when sequencing what type of genomic elements?
Repetitive elements.
A limitation of WGS is that _____, the presence of two or more cell lines, may not be detected.
mosaicism
In terms of accuracy for detecting single nucleotide changes, WGS is considered less accurate than which other sequencing method?
Sanger sequencing.
What is the typical range of read lengths for long-read sequencing?
From 10,000 to over 100,000 base pairs.
How is DNA treated prior to long-read sequencing, in contrast to short-read methods?
The DNA is sequenced without fragmentation.
What aspect of bioinformatics is simplified by using long-read sequencing?
Genome assembly.
Long-read sequencing is particularly advantageous for resolving complex genomic regions such as repetitive sequences and what other type of variation?
Structural variants.
What is a key clinical advantage of long-read sequencing?
It can facilitate a rapid diagnosis.
An advantage of long-read sequencing is its ability to characterise novel genomes without the need for _____.
reference genomes
Compared to short-read NGS or Sanger sequencing, what is a major limitation of long-read sequencing’s accuracy?
It has higher error rates.
What are two limitations of long-read sequencing regarding efficiency and resources?
Lower throughput and higher cost.
The analysis of data from long-read sequencing is considered to be _____.
complex
