Questions and Answers
A point mutation results in Single Nucleotide ______ (SNP) or Insertion/Deletion (Indel).
Polymorphism
A genetic ______ is a group of 3 nucleotide sequences that code a specific amino acid.
codon
An amino acid is a unit of ______.
proteins
Genetic variants can change ______.
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In DNA transcripts, 'T' is replaced by 'U' in ______.
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The first complete personal genome was sequenced by ______ technologies.
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James Watson and ______ Venter are known for their contributions to personal genomics.
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The sequencing cost of a human genome using NovaSeq X plus is approximately ______ USD.
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One of the government projects for personal genomics in the USA is the ______ Research program.
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Ultima Genomics can process about ______ human genomes per run.
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Study Notes
Genetic Variants and Mutations
- Point mutations can lead to Single Nucleotide Polymorphisms (SNPs) or Insertion/Deletion (Indels).
- Example mutations: AAGCTGCTGGCT in Parent can change to ATGCTGCTGGCT (SNP) and AAGCTGCTGG-T (Indel).
- Codons consist of three nucleotide sequences that correspond to specific amino acids, fundamental units of proteins.
- Genetic variants may alter amino acids, with DNA 'T' being replaced by RNA 'U' in transcription.
Personal Genomics
- The first complete personal genome was sequenced using next-generation sequencing technology and cost approximately 1 million USD over two months.
- Notable genomes sequenced include those of James Watson and Craig Venter from 1990 to 2003.
Next-Generation Sequencing (NGS)
- NGS methods include Illumina, Pacific Biosciences, and Oxford Nanopore.
- NovaSeq X Plus can sequence around 64 human genomes per run at a cost of approximately $200 per genome.
- Ultima Genomics sequences about 33 human genomes per run at approximately $100 per genome.
Government and Industry Genomic Projects
- Significant government genomic initiatives include UK’s Genome England, USA’s All of Us Research Program, and China's Kadoorie Biobank.
- Industry-driven projects are led by Human Longevity Inc., Verily Life Sciences, and Regeneron Genetics Center.
Impact of Genomics on Science
- Genomics is a driving force in multiple fields: bioinformatics, evolutionary genetics, developmental biology, medicine, public health, microbiology, forensics, and agriculture.
- Reduced sequencing costs have broadened the application of genomics across various scientific disciplines.
Population Genetics and Admixture
- Ancestry estimation in individual genomes reveals the proportion of different ancestries.
- Gene exchange between populations results in a mosaic ancestry structure, reflected in individual genetic profiles.
Asian Genetic Diversity and Data Gaps
- Significant genetic diversity exists among various Asian populations, including Indo-European, Austroasiatic, and others.
- Public genome databases lack sufficient representation of Asian ancestries, with GenomeAsia 100K and 1000 Genomes Project providing limited diversity data.
Importance of Ancestry in Genetic Studies
- Ancestry impacts the functional analysis of genetic variants and disease risk.
- Example: SNPs linked to primary open-angle glaucoma display varying significance across ancestry groups.
Adverse Drug Responses
- Demographic history affects genetic backgrounds among populations, influencing the response to medications and disease susceptibility.
- Genetic background can determine whether individuals exhibit adverse drug responses, emphasizing the need for personalized medicine.
Chromosomal Abnormalities
- Trisomy occurs when there are three copies of a chromosome (2n+1) due to nondisjunction during gamete formation, often related to maternal age.
- While trisomy frequently results in miscarriage, some pregnancies may result in live births despite the abnormality.
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Description
Test your knowledge of genetic mutations with this quiz focused on Single Nucleotide Polymorphisms (SNPs) and Insertion/Deletions (Indels). Understand how these mutations affect DNA sequences, as well as their implications in genetics and inheritance. Challenge your understanding of genetic codons and mutations.
