Genetic Sequence Analysis
Genetic Sequence Analysis - Related Videos
10:04
An Overview of Genetic Analysis
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2023
An organism’s physical traits, or phenotype, are a product of its genotype, which is the combination of alleles (gene variants) inherited from its parents. To varying degrees, genes interact with each other and environmental factors to generate traits. The distribution of alleles and traits within a population is influenced by a number of factors, including natural selection, migration, and random genetic drift.In this video, JoVE introduces some of the foundational discoveries in genetics,...
12:49
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
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Cited by 3 •
2011
Mutations in the kisspeptin receptor (KISS1R) are associated with reproductive disorders in patients. Here we describe how to introduce mutations of interest in the GC-rich sequence of KISS1R as well as the use of KISS1R constructs to characterize the degradation pathway of the receptor by immunoprecipitation and western blot.
08:16
Comparative Lesions Analysis Through a Targeted Sequencing Approach
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2019
This article describes a method to identify clonal and subclonal alterations among different specimens from a given patient. Although the experiments described here focus on a specific tumor type, the approach is broadly applicable to other solid tumors.
00:09
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Cited by 2 •
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Here, we introduce a semiconductor sequencing method for preimplantation genetic testing for aneuploidy (PGT-A) with the advantages of short turnaround time, low cost, and high throughput.
07:30
Optimization for Sequencing and Analysis of Degraded FFPE-RNA Samples
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Cited by 19 •
2020
This method describes the steps to improve the quality and quantity of sequence data that can be obtained from formalin-fixed paraffin-embedded (FFPE) RNA samples. We describe the methodology to more accurately assess the quality of FFPE-RNA samples, prepare sequencing libraries, and analyze the data from FFPE-RNA samples.
FAQs
Sequence alignment places DNA or RNA sequences in corresponding positions so researchers can evaluate similarity and identify differences. Comparing a sequence with a reference helps distinguish conserved regions from changes that may represent mutations or other sequence features. The reliability of the interpretation depends on the reference and the quality of the sequence data.
Variant calling focuses on detecting sequence changes relative to a reference rather than merely measuring overall similarity. It can reveal mutations or genetic variation, while the reference provides the comparison framework. This distinction matters in biological studies because a detected change must be interpreted alongside molecular or phenotypic evidence, rather than treated as proof of functional significance.
Conserved regions are stretches that remain similar across compared sequences, making them useful landmarks for interpreting biological function or relationships. Pattern recognition can highlight these regions as well as unusual changes. When similarity is assessed across organisms, the resulting patterns can contribute to evolutionary inference and help distinguish shared sequence features from organism-specific variation.
A typical workflow begins by obtaining DNA or RNA sequence data. Analysts then compare those sequences with reference sequences or databases, using alignment to place comparable positions and pattern recognition to identify notable regions. Variant-calling methods can detect sequence changes, after which the findings can be interpreted with molecular or phenotypic evidence. This sequence supports decisions about what to investigate experimentally.
Genetic sequence analysis can support genome annotation, which assigns meaning to sequence features, and can help investigate gene function. It is also used to characterize genes, compare genetic diversity across organisms, and infer evolutionary relationships. In disease research, linking sequence changes with molecular or phenotypic evidence can help researchers formulate and test explanations for observed biology.
The biological value of a sequence difference depends on context. A change identified through comparison becomes more informative when it can be linked to a phenotype or to molecular evidence. This combined interpretation helps researchers move from a list of nucleotide differences toward hypotheses about gene function, disease-related biology, or organismal diversity, while guiding experiments in molecular and computational biology.