#         Talking Glossary  of Genomic and Genetic Terms      

        The glossary features nearly 250 terms explained in an easy-to-understand way by leading scientists and        professionals at the National Human Genome Research Institute.      

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- A
- B
- C
- D
- E
- F
- G
- H
- I
- K
- L
- M
- N
- O
- P
- R
- S
- T
- U
- V
- X
- Y

## A

Adenine

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Allele

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Amino Acid

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Aneuploidy

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Animal Model

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Anticodon

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Antisense

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Autism 

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Autosomal Dominant Disorder

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Autosomal Recessive Disorder

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Autosome

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## B

Base Pair

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Bioinformatics

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Birth Defect

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BRCA1/BRCA2

*BRCA1**BRCA2**BRCA1**BRCA2*
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## C

Cancer

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Cancer-Susceptibility Gene

*BRCA1/BRCA2*
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Candidate Gene

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Carcinogen

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Carrier

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Carrier Screening

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Copy DNA (cDNA)

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Cell-Free DNA Testing

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Centimorgan (cM)

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Central Dogma

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Centromere

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Chromatid

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Chromatin

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Chromosome

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Cloning

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Codominance

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Codon

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Complex Disease

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Congenital

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Contig

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Copy Number Variation (CNV)

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CRISPR

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Crossing Over

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Cystic Fibrosis (CF)

*CFTR*
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Cytogenetics

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Cytosine

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## D

Data Science

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Deletion

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Deoxyribonucleic Acid (DNA)

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Diploid

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DNA Fingerprinting

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DNA Replication

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DNA Sequencing

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Dominant Traits and Alleles

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Double Helix

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Down Syndrome (Trisomy 21)

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Duplication

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## E

Electrophoresis

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Environmental Factors

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Epigenetics

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Epistasis

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Eugenics 

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Evolution

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Exome

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Exon

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## F

Family History

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Fibroblast

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First-Degree Relative

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Fluorescence In Situ Hybridization (FISH)

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Founder Effect

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Fragile X Syndrome

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Frameshift Mutation

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Fraternal Twins

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## G

Gamete

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Gender

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Gene

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Gene Amplification

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Gene Expression

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Gene Mapping

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Gene Pool

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Gene Regulation

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Gene Therapy

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Gene–Environment Interaction

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Genetic Ancestry

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Genetic Code

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Genetic Counseling

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Genetic Discrimination

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Genetic Drift

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Genetic Engineering

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Genetic Epidemiology

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Genetic Imprinting

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Genetic Information Nondiscrimination Act (GINA)

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Genetic Map

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Genetic Testing

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Genetics

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Genome

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Genome-Wide Association Study (GWAS)

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Genomic Medicine

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Genomic Variation

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Genomics

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Genotype

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Germ Line

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Gigabase (Gb)

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GMO (Genetically Modified Organism)

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Guanine

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## H

Haploid

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Haplotype

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Heterozygous

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Histone

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Homologous Recombination

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Homozygous

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Human Genome Project

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Human Genome Reference Sequence

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Huntington’s Disease

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Hybridization

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## I

Identical Twins

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In Situ Hybridization

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Inherited

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Insertion

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Intergenic Regions

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Intron

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Inversion

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## K

Karyotype

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Kilobase (kb)

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Knockout

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## L

Linkage

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Locus

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LOD Score

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LOH (Loss of Heterozygosity)

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Lyonization

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## M

Mapping

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Marker

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Megabase (Mb)

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Meiosis

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Mendel, Johann (Gregor)

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Mendelian Inheritance

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Messenger RNA (mRNA)

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Metagenomics

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Metaphase

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Methylation

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Microarray Technology

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Microbiome

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Microsatellite

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Missense Mutation

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Mitochondrial DNA

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Mitosis

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Monosomy

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Mosaicism

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Mutagen

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Mutation

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## N

Nanopore DNA Sequencing

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Nanotechnology

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Newborn Genetic Screening

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Next-Generation DNA Sequencing

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Non-Coding DNA

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Nonsense Mutation

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Northern Blot

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Nuclear Membrane

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Nucleic Acids

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Nucleolus

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Nucleopore

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Nucleosome

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Nucleotide

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Nucleus

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## O

Oncogene

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Open Reading Frame

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## P

Pedigree

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Peptide

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Pharmacogenomics

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Phenotype

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Physical Map

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Plasmid

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Point Mutation

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Polydactyly

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Polygenic Risk Score (PRS)

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Polygenic Trait

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Polymerase Chain Reaction (PCR)

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Polymorphism

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Population Genomics

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Positional Cloning

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Precision Medicine

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Primer

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Proband

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Promoter

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Protein

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Pseudogene

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## R

Race

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Recessive Traits and Alleles

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Recombinant DNA Technology

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Repressor

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Restriction Enzyme

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Restriction Fragment Length Polymorphism (RFLP)

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Retrovirus

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Ribonucleic Acid (RNA)

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Ribosome

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Risk

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## S

Scientific Racism

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Secondary Genomic Finding

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Sex Chromosome

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Sex-Linked

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Shotgun Sequencing

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Single Nucleotide Polymorphism (SNP)

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Somatic Cells

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Southern Blot

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Stop Codon

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Substitution

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Susceptibility

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Syndrome

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## T

Tandem Repeat

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Telomere

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Thymine

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Trait

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Transcription

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Transfer RNA (tRNA)

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Transgenic

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Translation

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Translocation

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Tumor Suppressor Gene

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## U

Uracil

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## V

Variant of Uncertain Significance (VUS)

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Vector

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Virus

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## X

X Chromosome

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X-Linked

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## Y

Y Chromosome

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# Popular

Gene Therapy

Genetic Code

Chromosome

Codominance

Mitosis

Deoxyribonucleic Acid (DNA)

Ribonucleic Acid (RNA)

Shotgun Sequencing