Related Experiment Video
Updated: May 12, 2026
09:40
Novel Sequence Discovery by Subtractive Genomics
Published on: January 25, 2019
Comprehensively identifying and characterizing the missing gene sequences in human reference genome with integrated
Geng Chen1, Charles Wang, Leming Shi
1Center for Bioinformatics and Computational Biology, Shanghai Key Laboratory of Regulatory Biology, China.
Human Genetics
|April 11, 2013
Summary
Researchers identified missing human genes using RNA-Seq data, revealing potential functions and causes for their absence in the reference genome. This work highlights the importance of completing the human genome sequence.
Area of Science:
- Genomics
- Transcriptomics
- Bioinformatics
Background:
- The human reference genome remains incomplete, with numerous gene sequences missing.
- Understanding the reasons for these omissions and the functions of missing genes is crucial but underexplored.
Purpose of the Study:
- To comprehensively identify and characterize genes missing from the human reference genome.
- To investigate the potential causes and biological significance of these missing genetic sequences.
Main Methods:
- Utilized RNA-Seq data from 16 human tissues.
- Employed a combined approach of genome-guided transcriptome reconstruction and genome-wide comparison.
- Performed de novo transcriptome assembly to identify novel transcript contigs.
Main Results:
- Uncovered significant transcribed regions absent from the NCBI human reference genome build 37.2.
- Identified novel transcript contigs unalignable to NCBI build 37.2 but alignable to other mammalian genomes.
- Determined that missing genes may arise from genome misassembly, structural variations, and copy number variations.
- Detected 1,233 functional protein domains within these missing genes, suggesting conserved biological functions.
Conclusions:
- The study provides novel methods for discovering missing genes in genome assemblies.
- Suggests structural variations and misassembly as primary causes for gene absence.
- Emphasizes the biological importance of these missing genes, many of which are conserved across mammals.
More Related Videos
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
09:06High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)
Published on: October 5, 2018
Related Concept Videos
03:36Genome Annotation and Assembly
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
02:02Genomics
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...
02:54Evolutionary Relationships through Genome Comparisons
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
03:00Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...