Genomic Studies and Human Disease Quiz

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Questions and Answers

How many genes are there in Genomics (DNA)?

100,000

10,000

1,000,000

25,000 (correct)

What does Proteomics study?

DNA sequence

Proteins (correct)

Structural variation

RNA

What method is used for genomic analysis mentioned in the text?

Microarray hybridization

PCR amplification

Bioinformatics

High-throughput sequencing (correct)

Which statistical method was used in the study to identify genetic factors influencing quantitative traits?

Genome-Wide Association Study (GWAS) Signup and view all the answers

In which population were the cohorts recruited for the study?

Korean Signup and view all the answers

What is the significance level of the signal mapped to chromosome 1q32 for pulse rate?

$P = 2.9 \times 10^{-7}$ Signup and view all the answers

Which gene is located ~400 Lf from the coding sequence of GJATL on chromosome 6q22?

ATP2B1 Signup and view all the answers

Which chromosome and gene were involved in the most compelling association for systolic blood pressure?

Chromosome 12q21 and ATP2B1 Signup and view all the answers

Which variant showed convincing associations for waist-hip ratio?

rs1721300 on chromosome 12q24 Signup and view all the answers

Which gene was associated with bone density at the radius, tibia, and heel?

FAMIC Signup and view all the answers

What is the significance level of the association for bone density at the radius for rs7776725 on chromosome 7q31?

$P = 1.0 \times 10^{-5}$ Signup and view all the answers

What term is used to describe an individualized approach to patients based on genetic information?

Personalized Medicine Signup and view all the answers

What can the use of genetic information regarding common diseases lead to?

Improved health outcomes Signup and view all the answers

Which statistical method is commonly used for the prediction of complex diseases using multiple genes?

Logistic Regression Signup and view all the answers

What does the acronym GWAS stand for?

Genome-Wide Association Study Signup and view all the answers

What is the main focus of the Philippine Genome Center?

Health, medicine, agriculture, biodiversity, forensics, and ethnicity Signup and view all the answers

What is the vision of the Philippine Genome Center?

To become a center of excellence in gene discovery and genomics research Signup and view all the answers

What does the Philippine Genome Center aim to implement and promote?

A research program-driven agenda on identified priority areas of national need and competitive advantage Signup and view all the answers

What is one of the focuses of the center's training efforts?

Training future scientists, researchers, and experts in genomics and bioinformatics Signup and view all the answers

What do genomics and bioinformatics provide solutions for?

Medicine, agriculture, and biodiversity Signup and view all the answers

What is the goal of the Philippine Genome Center in relation to facilities?

To create a roadmap for building a sustainable genomics facility in the Philippines Signup and view all the answers

What does the genome annotation process involve?

Identifying elements on the genome and attaching biological information to these elements Signup and view all the answers

What remains a challenge in genomics research?

Identifying genes Signup and view all the answers

How long have researchers been filling in incompletely sequenced parts of the human reference genome?

20 years Signup and view all the answers

What is the size of the human reference genome in terms of DNA base pairs?

3.05 billion DNA base pairs Signup and view all the answers

What does the precision of genomics and DNA enable?

The creation of applications specifically optimized for the Philippines Signup and view all the answers

What is the percentage of uncharted territory in the human genome after it was sequenced in 2003?

8% Signup and view all the answers

Which project aimed to define genetic variation across the human genome by testing populations like CEU, CHB, JPT, and YRI?

The International HapMap Project Signup and view all the answers

What are the most abundant genetic variation in the human genome?

Single Nucleotide Polymorphisms (SNPs) Signup and view all the answers

What is the role of Comparative Genomics?

To compare genome sequences of different species to understand evolution, differences, and essential genes Signup and view all the answers

What was the aim of the Human Genome Project?

To understand human genetic information Signup and view all the answers

What contributes to genetic variation in the human genome besides SNPs?

Copy Number Variations (CNVs) Signup and view all the answers

What do Single Nucleotide Polymorphisms (SNPs) occur in about every?

1 in 2,200 nucleotides Signup and view all the answers

What technique is used to explore the entire human genome?

Whole-genome sequencing Signup and view all the answers

How was the HapMap constructed?

By identifying SNPs in DNA samples from multiple individuals and then using tag SNPs Signup and view all the answers

What is the purpose of the International HapMap Project?

To efficiently select SNPs to 'tag' common variants and understand haplotypes and genetic variation Signup and view all the answers

What is the error possibility in the uncharted territory of the human genome sequenced since 2003?

0.3% Signup and view all the answers

What are scientists still uncertain about despite narrowed estimates?

The number of protein-making genes Signup and view all the answers

What is the main goal of the 1000 Genomes Project?

To extend and refine the HapMap catalog, with a goal to identify gene variants associated with disease susceptibility Signup and view all the answers

What is the focus of the 100,000 Genomes Project?

Rare diseases, some common cancers, and infectious diseases Signup and view all the answers

What is the goal of genome-wide association studies (GWAS)?

To find connections between heritable phenotypes and whole-genome genotypes Signup and view all the answers

What does personal genomics involve?

Deducing a person's entire genetic code, often employing SNP analysis or full genome sequencing Signup and view all the answers

What is responsible for adaptive changes underlying evolution?

Genetic variation Signup and view all the answers

What does using SNPs to track predisposition to disease involve?

Databases with reference human genome sequences and technologies to analyze genetic variations Signup and view all the answers

What does GWAS methodology include?

Collecting phenotypic information, DNA extraction, genotyping, and association detection using software Signup and view all the answers

What are genotyping chips, such as Affymetrix 100k, 500k, and 1M chips, used for?

Whole-genome genotyping with varying SNP densities Signup and view all the answers

What did a large-scale genome-wide association study of Asian populations uncover?

Genetic factors influencing eight quantitative traits Signup and view all the answers

What was involved in the large-scale genome-wide association study of Asian populations?

A large number of researchers and identifying genetic factors influencing quantitative traits Signup and view all the answers

Study Notes

Genomic Studies and Human Disease

Haplotypes are compiled from adjacent SNPs inherited together, and tag SNPs are identified to uniquely identify those haplotypes
The 1000 Genomes Project aims to extend and refine the HapMap catalog, with a goal to identify gene variants associated with disease susceptibility
The 100,000 Genomes Project, a UK NHS-based project, focuses on rare diseases, some common cancers, and infectious diseases
Personal genomics involves deducing a person's entire genetic code, often employing SNP analysis or full genome sequencing
Genetic variation is responsible for adaptive changes underlying evolution, with some changes improving fitness and others leading to disease
Genome-wide association studies (GWAS) aim to find connections between heritable phenotypes and whole-genome genotypes
GWAS involves scanning markers (e.g., SNPs) across genomes of many people to find genetic variations associated with particular diseases
Using SNPs to track predisposition to disease involves databases with reference human genome sequences and technologies to analyze genetic variations
GWAS methodology includes collecting phenotypic information, DNA extraction, genotyping, and association detection using software
Genotyping chips, such as Affymetrix 100k, 500k, and 1M chips, are used for whole-genome genotyping with varying SNP densities
A large-scale genome-wide association study of Asian populations uncovered genetic factors influencing eight quantitative traits
The study involved a large number of researchers and identified genetic factors influencing quantitative traits in Asian populations

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Description

Test your knowledge of genomic studies and human disease with this quiz. Explore topics such as haplotypes, the 1000 Genomes Project, personal genomics, genetic variation, genome-wide association studies (GWAS), genotyping chips, and more.