Related Experiment Video
Updated: Feb 9, 2026
09:16
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
20.5K
High-resolution comparative analysis of great ape genomes
Zev N Kronenberg1, Ian T Fiddes2, David Gordon1,3
1Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Science (New York, N.Y.)
|June 9, 2018
Summary
Researchers created new, high-quality chimpanzee and orangutan genome assemblies. These assemblies revealed thousands of human-specific genetic changes, offering insights into human evolution and brain development.
Area of Science:
- Genomics
- Evolutionary Biology
- Primatology
Background:
- High-quality, non-human-reference-guided ape genome assemblies are crucial for studying human evolution.
- Previous ape genome assemblies have limitations in contiguity and accuracy.
Purpose of the Study:
- To produce de novo, high-quality genome assemblies for chimpanzees and orangutans.
- To compare these assemblies with human and gorilla genomes to identify great ape genetic variation.
- To characterize human-specific genetic changes since divergence from non-human apes.
Main Methods:
- Coupled long-read sequencing and full-length complementary DNA sequencing.
- Employed a multiplatform scaffolding approach for ab initio genome assembly.
- Comparative genomics analysis with existing human and gorilla genome assemblies.
Main Results:
- Successfully produced de novo chimpanzee and orangutan genome assemblies.
- Characterized lineage-specific and shared great ape genetic variation across multiple size scales.
- Identified approximately 17,000 fixed human-specific structural variants impacting genes and regulatory regions.
Conclusions:
- The identified human-specific variants represent genetic changes since human-ape divergence.
- These variants are enriched near genes downregulated in human cerebral organoids, particularly neural progenitors.
- Provides a valuable resource for understanding genetic underpinnings of human uniqueness and brain evolution.
Related Concept Videos
02:16Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
16.5K
The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
16.5K
01:20Comparing the Survival Analysis of Two or More Groups
609
Survival analysis is a cornerstone of medical research, used to evaluate the time until an event of interest occurs, such as death, disease recurrence, or recovery. Unlike standard statistical methods, survival analysis is particularly adept at handling censored data—instances where the event has not occurred for some participants by the end of the study or remains unobserved. To address these unique challenges, specialized techniques like the Kaplan-Meier estimator, log-rank test, and...
609
02:02Genomics
40.8K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
40.8K
03:21Genome Size and the Evolution of New Genes
9.2K
While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
9.2K
02:30Genomic Imprinting and Inheritance
37.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
37.2K
02:26Comparing Copy Number Variations and SNPs
18.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.8K