Saudi Genome Program Overview

<p>More than 99% (B)</p> Signup and view all the answers

<p>They support the DNA structure by coiling it (A)</p> Signup and view all the answers

<p>A genome is the complete set of DNA, while a gene is a functional piece of that DNA (B)</p> Signup and view all the answers

<p>Less than 1% (B)</p> Signup and view all the answers

<p>Structural proteins (D)</p> Signup and view all the answers

<p>Haemophilus influenza (A)</p> Signup and view all the answers

<p>Saudi Human Genome Program (A)</p> Signup and view all the answers

<p>Limiting and preventing genetic diseases (A)</p> Signup and view all the answers

<p>Cancer Stem Cell Initiative (C)</p> Signup and view all the answers

<p>2018 (A)</p> Signup and view all the answers

<p>To determine variants underlying genetic diseases in the population (C)</p> Signup and view all the answers

<p>Genomics and Bioinformatics (B)</p> Signup and view all the answers

<p>It has no relevance to human health. (D)</p> Signup and view all the answers

<p>It divides the chromosome into two arms. (C)</p> Signup and view all the answers

<p>23 pairs (B)</p> Signup and view all the answers

<p>The 23rd pair of chromosomes (C)</p> Signup and view all the answers

<p>Common consanguinity (A)</p> Signup and view all the answers

<p>7,500 variants (B)</p> Signup and view all the answers

<p>A variant that is inherited from a parent (A)</p> Signup and view all the answers

<p>Errors during DNA replication or environmental factors (D)</p> Signup and view all the answers

<p>To understand the genetic landscape and disease spectrum (C)</p> Signup and view all the answers

<p>Chain termination method (B)</p> Signup and view all the answers

<p>To screen for disease variants specific to the Saudi population (A)</p> Signup and view all the answers

<p>Being passed to the next generation (C)</p> Signup and view all the answers

<p>Sickle Cell Anemia (A)</p> Signup and view all the answers

<p>The p arm is the short arm; the q arm is the long arm. (A)</p> Signup and view all the answers

<p>Facilitates genetic counseling for informed decisions (A)</p> Signup and view all the answers

<p>1,230 mutations (C)</p> Signup and view all the answers

<p>Prevention of disability from genetic disorders (B)</p> Signup and view all the answers

<p>Illumina NovaSeq (A)</p> Signup and view all the answers

<p>Transforming signals into nucleotide sequences (A)</p> Signup and view all the answers

<p>Secondary analysis (B)</p> Signup and view all the answers

<p>Developing personalized treatment methods (D)</p> Signup and view all the answers

<p>Mutations from sequencing errors (C)</p> Signup and view all the answers

A genome is the complete set of DNA within an organism.

In eukaryotes, the genome is primarily located within the cell nucleus.

A genome is the entire DNA, while a gene is a specific functional part of that DNA that codes for a protein.

The human genome contains approximately 3 billion base pairs of DNA.

Chromosomes are thread-like structures that package DNA within the cell nucleus.

While most of the human genome is similar across individuals, there are also many differences.

Chromosomes consist of DNA tightly coiled around proteins called histones.

Genes encode instructions for building either structural or functional proteins.

Haemophilus influenzae was the first organism to have its entire genome sequenced in 1995.

A large-scale research project to map and sequence the entire human genome.

A large-scale program in Saudi Arabia for genomic research and application to healthcare.

Methods used to determine the sequence of DNA or other genetic material.

Using a patient's genetic information to tailor medical treatments.

A collection of genetic information from a specific population or group.

A disease caused by a change in or mutation of a gene or genes.

A research project aiming to understand human genetic variation.

The constriction point on a chromosome, dividing it into p and q arms.

The shorter arm of a chromosome.

The longer arm of a chromosome.

Chromosome pairs that are the same in males and females.

The 23rd chromosome pair, differing between males and females.

A permanent change in DNA sequence of a gene.

Gene variant inherited from a parent, present in every cell.

Gene variant arising during a person's life, not in every cell.

Primary analysis involves reading the raw genomic signals and processing them. This includes base calling, which converts the signals into nucleotide sequences.

Secondary analysis aligns the sequenced reads to a reference human genome, reconstructing the subject's genome. This involves mapping individual reads, adjusting alignments, and identifying genetic variations.

Personalized medicine uses an individual's genetic makeup to guide treatment decisions, leading to more effective treatments and potentially reducing side effects.

Pre-implantation genetic screening analyzes embryos before implantation, allowing identification of genetic conditions and selection of healthier embryos.

Newborn screening tests infants for genetic disorders soon after birth. This allows for early detection and intervention, improving medical outcomes.

Marriage between individuals who are closely related, such as cousins. This practice is common in Saudi Arabia and contributes to the prevalence of genetic disorders.

A program used to identify genetic disorders in couples before marriage. It helps couples make informed decisions about family planning and potentially prevent passing on genetic diseases to their children.

A customized technology used for premarital screening in Saudi Arabia. It helps identify genetic variants and mutations specific to the Saudi population, including those causing rare diseases.

Mutations unique to a specific population, like those identified in the Saudi population, which haven't been observed elsewhere.

Identifying genetic disorders early in life can lead to early interventions and potentially prevent severe health complications. It can also improve quality of life for individuals with genetic disorders.

Providing individuals with information about genetic risks, inheritance patterns, and available options for family planning. It helps couples understand their genetic risks and make informed decisions.

Studying genetic disorders within the Kingdom of Saudi Arabia helps gain a deeper understanding of the specific genetic landscape and disease spectrum of the Saudi population, leading to better diagnoses and treatments for undiagnosed cases.

Genetic disorders have a substantial impact on individuals, families, and the national healthcare system. This includes medical costs, social stigma, and the need for specialized healthcare services.