Chapter 20.1, Problem 1TPSQ

Summary Introduction

To explain:

Does the sequencing laboratory or physician have an obligation to report this finding, which was not the purpose of the sequencing and which the patient did not request.

Introduction:

Sequencing helps in the analysis of the sequences present in the genome. It analyzes mutations, single-nucleotide polymorphisms, genetic variations, insertions, deletions, inversions, and translocations in the genome.

There are various hurdles during analysis and sequencing, of the sequences present in the genome like analysis of gaps in sequences present, identification of false positives, and presence of repeat sequences in the genome.

Summary Introduction

To explain:

What about reporting variants for which no or limited information can be provided about their clinical significance.

Introduction:

Copy number variations are changes and differences in the large sequences in the genome. It includes the analysis of variations, duplications, insertions and deletions in the sequences in the genome.

Summary Introduction

To explain:

Does the answer to this question differ for sequencing done on children.

Introduction:

Sequencing techniques help in the identification of genes with analysis of disease profile of patients.