What does a phred in a fastq format indicate

Reference no: EM133291152

Question 1: a. Ntokozo, a Senior Scientist in a Molecular Diagnostics laboratory just obtained a set of raw SARS-CoV2 DNA sequences in FASTQ format from a sequencing company. As an important step in most next-generation sequencing (NGS) pipelines, she aligned the sequences to a reference genome. What is the purpose of this alignment in the NGS pipeline?

Question 2: What does a phred in a FASTQ format indicate in a read?

Question 3: List and briefly explain the classes of human genetic variations that cause diseases.

Question 4: Although whole genome sequencing and whole exome sequencing have been powerful approaches in disease diagnosis, transcriptomics is however still being complementarily employed in the study and diagnosis of rare diseases in humans. State its benefits and challenges.

Reference no: EM133291152

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