The document discusses interval position analysis (IPA), a method for analyzing DNA and RNA sequences. IPA calculates characteristics such as V, G, and g values based on the distances between similar elements in a sequence. The values of IPA characteristics are sensitive to the order of elements in a sequence. IPA can be used to construct phylogenetic trees and analyze local profiles of RNA sequences. Heap's law and rank distribution models are also discussed in relation to evaluating DNA segmentation.
DNA microarrays contain small spots of DNA, with each spot representing a different gene. The intensity of each spot indicates the expression level of that gene's mRNA. Microarrays allow clustering of genes and experiments based on similar expression profiles, linking related pathway components. Post-translational modifications of histone tails, such as acetylation, provide binding sites that regulate chromatin structure and transcription.
This document discusses adrenoleukodystrophy (ALD), which is caused by mutations in the ABCD1 gene. The ABCD1 gene contains 10 exons and encodes a peroxisomal membrane protein involved in fatty acid metabolism. The study examines a patient with ALD caused by a splicing mutation, c.1780+2T>G, in the ABCD1 gene. Experiments such as PCR, RT-PCR, and bioinformatics analysis predict this mutation causes abnormal splicing. The results suggest the mutation leads to exon skipping or intron retention, preventing proper transcription of the ABCD1 gene and explaining the patient's lack of the ALD protein.
This document discusses genomic disorders caused by DNA rearrangements such as deletions, duplications, inversions, and insertions ranging from kilobases to megabases. These rearrangements are mediated by mechanisms involving non-allelic homologous recombination between low-copy repeats, also called segmental duplications. Several genomic disorders are described that result from rearrangements between specific low-copy repeats, including deletions causing Wolf-Hirschhorn syndrome, Williams-Beuren syndrome, and Prader-Willi syndrome. Diagnostic methods for detecting DNA rearrangements are also summarized, such as fluorescence in situ hybridization, pulsed-field gel electrophoresis, array comparative genomic hybridization, and multiplex ligation-
The document discusses various techniques for studying signal transduction and transcription control, including examples of signaling pathways like RTK/Ras/MAPK and Wnt pathways. It describes methods to measure transcriptional activity like reporter assays, and techniques to determine if regulation occurs through transcription like RT-PCR, protein expression analysis, and chromatin immunoprecipitation followed by PCR or microarray analysis.
Dr. Marçal Gallemí. Unitat de Genètica Molecular Vegetal / About plant respon...xrbiotech
Plants respond to proximity of other vegetation through shade avoidance syndrome (SAS). When plants detect low red (R) to far-red (FR) light ratios, which indicates nearby vegetation, they activate SAS even before being shaded. This single low R:FR signal regulates SAS throughout a plant's lifecycle, inducing responses like hypocotyl elongation and flowering time changes. The transcription factor ATHB4 is a direct target of phytochrome photoreceptors that perceive R:FR light. Studies on ATHB4 deletion fragments show that its N-terminal domain is required for SAS responses to low R:FR, suggesting it acts through DNA-binding to regulate gene expression and mediate shade avoidance.
Bioinformática y supercomputación. Razones para hacerse bioinformático en la UMAM. Gonzalo Claros
¿En qué consiste la bioinformática? ¿Cómo puedo especializarme? ¿Dónde? Capacidad de supercomputación en la UMA. Recientes logros bioinformáticos relacionados con la medicina y con la ciencia en general, muchos de ellos realizados por equipos de la UMA.
This document summarizes work done on culturing crocodile cell lines and cloning the parc gene from Pseudomonas keratitis. Primary crocodile cell lines were established from various organs and immortalized using hTERT. The parc gene was cloned from mutant and wild-type Pseudomonas strains and will be expressed and crystallized to study its role in quinolone antibiotic resistance.
1. DNA contains the genetic instructions used in the development and functioning of all living organisms. It is made up of four chemical bases (A, T, C, G) that form base pairs between strands.
2. DNA replicates through a semi-conservative process where the double helix unwinds and each strand acts as a template for new partner strands. This ensures genetic information is preserved as cells divide.
3. Genes encoded in DNA are expressed via transcription of DNA to mRNA and translation of mRNA to proteins. Transfer RNA (tRNA) molecules match mRNA codons to amino acids during protein synthesis.
The document discusses DNA sequencing software. It describes a fast and accurate DNA sequencing assembly software for Windows that can assemble DNA sequences into contigs and directly compare trace data to nucleotide data. It handles over 100,000 samples from various sequence and file formats and accelerates proofreading and comparing nucleotides to trace peaks. Several other related DNA sequencing software are also mentioned such as DNA DYNAMO, DNA MASTER, and Mesto DNA program starter.
The document discusses two bioinformatics software tools: DNA Baser and Darwin. DNA Baser is a tool for manual and automatic DNA sequence assembly, analysis, editing, and more. It allows for automation of sequence assembly through functions like end trimming, vector removal, and batch assembly of thousands of sequences. Darwin is an interpreted computer language for research in bioscience that provides libraries and functions for tasks like sequence comparison, alignment, phylogenetics, and more.
this is the project regarding the detection and analysis of DNA sequences,it provide the fascility to find the repets from the hudge data set.we can find tha all repeats which is occured in human body.
Genome assembly: then and now (with notes) — v1.2Keith Bradnam
This was a talk given on 2014-09-17 for the Genome Center’s Bioinformatics Core as part of a 1 week workshop. It concerns the Assemblathon projects as well as other aspects relating to genome assembly.
A version of this talk is also available on Slideshare without notes.
Note, this is an evolving talk. There are older and newer versions of the talk also available on slideshare.
DNA testing has become the "gold standard" of forensics, but linking an item of evidence to a person of interest isn't always clear cut. New open source tools allow DNA analysts to give statistical weight to evidentiary profiles that were previously unusable, letting juries weigh the evidence for themselves. This talk will discuss the Lab Retriever software package for probabilistic genotyping.
The document discusses analysis of DNA microarray data using various techniques including gene-based, gene set, and functional group approaches. It describes preprocessing methods, platforms like Affymetrix, and tools for analysis including LIMMA and GSEA. Applications mentioned include biomarker discovery, clinical outcomes, and regulatory network analysis.
Genome and Proteome data integration in RDFNadia Anwar
The document summarizes integrating genome and proteome data from Francisella tularensis in RDF. It discusses integrating data from multiple sources, including genome annotations, proteomics experiments, and transcriptomics data. Semantic data integration across "omes" data silos is demonstrated using RDF and the open source Sesame framework. Reifying biological statements, such as identified peptides and abundances, allows more complex queries across the integrated data.
A I Macan Markar & Co is a chartered accountancy firm founded in 1946 in Sri Lanka. It has 4 partners and provides auditing, taxation, management consulting, and IT services to clients across various industries. The firm also has associated companies that offer secretarial services, management consulting, and legal advice.
ubio is starting a series of biology tutorials aimed at introducing biology, biotechnology and bioinformatics to computer engineers. The first part of the presentation is essentially a biochemistry tutorial that introduces molecular biochemistry.
Application of Marker Assisted Selection (MAS) for the improvement of Bean Co...CIAT
The document summarizes efforts to develop common bean varieties in Rwanda resistant to Bean Common Mosaic Necrotic Virus (BCMNV) using Marker Assisted Selection (MAS). Researchers screened 219 bean varieties and identified genes conferring resistance. They developed 86 breeding lines by crossing donor lines containing resistance genes with local varieties. These lines were selected using linked markers and for resistance to BCMNV and other diseases. Participatory plant breeding involved farmers in selection. The integration of conventional breeding and MAS was successful in pyramiding resistance genes and developing lines adapted to Rwanda.
- DNA molecules are very long and consist of millions of base pairs. To study their structure, restriction enzymes are used to cut the DNA molecules into smaller, easier to analyze fragments at specific recognition sites.
- The fragments produced can be separated by gel electrophoresis based on their size, with shorter fragments traveling farther through the gel. This produces a pattern called a genetic fingerprint that can be used for applications like genetic profiling in criminal cases.
- The human genome project aimed to map all human genes by determining the full DNA sequence. While about 3% of human DNA codes for proteins, other non-coding "junk DNA" may have undiscovered functions and contains regions of repeated sequences that vary between individuals.
The document summarizes several recent biotechnology innovations, including using oil-eating bacteria to clean up oil spills, using a protein called GDF 11 to improve aging brains and muscles in mice, developing advanced biofuels from cellulosic biomass, using 3D x-ray filming to study insect movements, discovering anti-psychotic drugs that kill brain cancer, developing affordable genome sequencing technology, engineering immune cells to attack cancer, creating RNA detection probes without harming cells, and assessing monoclonal antibody therapies using ADCC reporter assays.
Now days Biotech Era, What is application of biotechnology in Agriculture, Plantation and fertilizer. If we want to Improve qualitative and quantitative of Agri & Plantation then we definitely need of applying Biotechnological application.
Back to Basics: Fundamental Concepts and Special Considerations in gDNA Isola...QIAGEN
This document provides an overview of genomic DNA (gDNA) isolation. It discusses key considerations for gDNA isolation including sample stabilization, disruption, and storage. Common isolation technologies like silica membrane and magnetic bead kits are described. The document reviews measuring gDNA concentration and quality via UV spectroscopy and gel electrophoresis. It also provides guidance on selecting appropriate QIAGEN gDNA isolation kits based on sample type.
Analysis and Interpretation of Cell-free DNAQIAGEN
Identification and monitoring of cancer mutations from cell free DNA-Seq data is a key application in liquid biopsy. In this part of the webinar we will show how mutations can be best identified from this type of data and how they can be interpreted. Furthermore, potential challenges when analyzing this type of data will be discussed together with relevant strategies.
Statistical approaches for the interpretation of DNA evidencehindahaned
This document discusses different statistical approaches for interpreting DNA evidence, including allele-centric and genotype-centric approaches. It describes probability of exclusion/inclusion, random match probability, and likelihood ratios. Likelihood ratios are considered the preferred approach as they make use of more information, provide a better estimation of evidence strength, and can model uncertainties in DNA sample composition. International consensus now recommends probabilistic and likelihood ratio approaches over classical methods for DNA evidence interpretation.
The document discusses DNA sequencing software. It describes a fast and accurate DNA sequencing assembly software for Windows that can assemble DNA sequences into contigs and directly compare trace data to nucleotide data. It handles over 100,000 samples from various sequence and file formats and accelerates proofreading and comparing nucleotides to trace peaks. Several other related DNA sequencing software are also mentioned such as DNA DYNAMO, DNA MASTER, and Mesto DNA program starter.
The document discusses two bioinformatics software tools: DNA Baser and Darwin. DNA Baser is a tool for manual and automatic DNA sequence assembly, analysis, editing, and more. It allows for automation of sequence assembly through functions like end trimming, vector removal, and batch assembly of thousands of sequences. Darwin is an interpreted computer language for research in bioscience that provides libraries and functions for tasks like sequence comparison, alignment, phylogenetics, and more.
this is the project regarding the detection and analysis of DNA sequences,it provide the fascility to find the repets from the hudge data set.we can find tha all repeats which is occured in human body.
Genome assembly: then and now (with notes) — v1.2Keith Bradnam
This was a talk given on 2014-09-17 for the Genome Center’s Bioinformatics Core as part of a 1 week workshop. It concerns the Assemblathon projects as well as other aspects relating to genome assembly.
A version of this talk is also available on Slideshare without notes.
Note, this is an evolving talk. There are older and newer versions of the talk also available on slideshare.
DNA testing has become the "gold standard" of forensics, but linking an item of evidence to a person of interest isn't always clear cut. New open source tools allow DNA analysts to give statistical weight to evidentiary profiles that were previously unusable, letting juries weigh the evidence for themselves. This talk will discuss the Lab Retriever software package for probabilistic genotyping.
The document discusses analysis of DNA microarray data using various techniques including gene-based, gene set, and functional group approaches. It describes preprocessing methods, platforms like Affymetrix, and tools for analysis including LIMMA and GSEA. Applications mentioned include biomarker discovery, clinical outcomes, and regulatory network analysis.
Genome and Proteome data integration in RDFNadia Anwar
The document summarizes integrating genome and proteome data from Francisella tularensis in RDF. It discusses integrating data from multiple sources, including genome annotations, proteomics experiments, and transcriptomics data. Semantic data integration across "omes" data silos is demonstrated using RDF and the open source Sesame framework. Reifying biological statements, such as identified peptides and abundances, allows more complex queries across the integrated data.
A I Macan Markar & Co is a chartered accountancy firm founded in 1946 in Sri Lanka. It has 4 partners and provides auditing, taxation, management consulting, and IT services to clients across various industries. The firm also has associated companies that offer secretarial services, management consulting, and legal advice.
ubio is starting a series of biology tutorials aimed at introducing biology, biotechnology and bioinformatics to computer engineers. The first part of the presentation is essentially a biochemistry tutorial that introduces molecular biochemistry.
Application of Marker Assisted Selection (MAS) for the improvement of Bean Co...CIAT
The document summarizes efforts to develop common bean varieties in Rwanda resistant to Bean Common Mosaic Necrotic Virus (BCMNV) using Marker Assisted Selection (MAS). Researchers screened 219 bean varieties and identified genes conferring resistance. They developed 86 breeding lines by crossing donor lines containing resistance genes with local varieties. These lines were selected using linked markers and for resistance to BCMNV and other diseases. Participatory plant breeding involved farmers in selection. The integration of conventional breeding and MAS was successful in pyramiding resistance genes and developing lines adapted to Rwanda.
- DNA molecules are very long and consist of millions of base pairs. To study their structure, restriction enzymes are used to cut the DNA molecules into smaller, easier to analyze fragments at specific recognition sites.
- The fragments produced can be separated by gel electrophoresis based on their size, with shorter fragments traveling farther through the gel. This produces a pattern called a genetic fingerprint that can be used for applications like genetic profiling in criminal cases.
- The human genome project aimed to map all human genes by determining the full DNA sequence. While about 3% of human DNA codes for proteins, other non-coding "junk DNA" may have undiscovered functions and contains regions of repeated sequences that vary between individuals.
The document summarizes several recent biotechnology innovations, including using oil-eating bacteria to clean up oil spills, using a protein called GDF 11 to improve aging brains and muscles in mice, developing advanced biofuels from cellulosic biomass, using 3D x-ray filming to study insect movements, discovering anti-psychotic drugs that kill brain cancer, developing affordable genome sequencing technology, engineering immune cells to attack cancer, creating RNA detection probes without harming cells, and assessing monoclonal antibody therapies using ADCC reporter assays.
Now days Biotech Era, What is application of biotechnology in Agriculture, Plantation and fertilizer. If we want to Improve qualitative and quantitative of Agri & Plantation then we definitely need of applying Biotechnological application.
Back to Basics: Fundamental Concepts and Special Considerations in gDNA Isola...QIAGEN
This document provides an overview of genomic DNA (gDNA) isolation. It discusses key considerations for gDNA isolation including sample stabilization, disruption, and storage. Common isolation technologies like silica membrane and magnetic bead kits are described. The document reviews measuring gDNA concentration and quality via UV spectroscopy and gel electrophoresis. It also provides guidance on selecting appropriate QIAGEN gDNA isolation kits based on sample type.
Analysis and Interpretation of Cell-free DNAQIAGEN
Identification and monitoring of cancer mutations from cell free DNA-Seq data is a key application in liquid biopsy. In this part of the webinar we will show how mutations can be best identified from this type of data and how they can be interpreted. Furthermore, potential challenges when analyzing this type of data will be discussed together with relevant strategies.
Statistical approaches for the interpretation of DNA evidencehindahaned
This document discusses different statistical approaches for interpreting DNA evidence, including allele-centric and genotype-centric approaches. It describes probability of exclusion/inclusion, random match probability, and likelihood ratios. Likelihood ratios are considered the preferred approach as they make use of more information, provide a better estimation of evidence strength, and can model uncertainties in DNA sample composition. International consensus now recommends probabilistic and likelihood ratio approaches over classical methods for DNA evidence interpretation.
Evaluating allelic drop-out probabilities using a Monte-Carlo simulation appr...hindahaned
IPA for DNA analysis
1. Interval position analysis (IPA)
Common order
g=1.0308 ACCTTCATCCCCAACAAC
CACCACCATTACCACCAT
g=1.0462
g=1.0586 CACCACCATTACCACCTA
H=1.4591
IPA characteristics' values sensitive to the order of
elements in contrast to the characteristics of
Information theory (Claude Shannon)
2. Interval position analysis (IPA)
Special order
CT AGCT AGCT AGCT AGCT AGCT AGCT AGCT AG
1 2 3 4 1 2 3 4 1 2 3 4 1 2 3 4 1 2 3 4 1 2 3 4 1 2 3 4 1 2 3 4
H=2
g≈2
L→∞
g→H
If the special order of items in the sequence the values
of the characteristics of the IPA are approximately equal
to values of simular characteristics in Information theory
(Claude Shannon)
6. Local g profile
Local g profiles for 3 different organisms (Ribosomal RNA)
RNA length ≈ 1800
CACCACCATTACCACCAT window size = 100
step = 2 nucleotide
7. Evaluation of DNA segmentation based on the law
Heaps
Gnomic: A dictionary of genetic codes Pareto distribution http://goo.gl/PWu8B
Trifonov E, Brendel, V http://goo.gl/dZxJo Zipf’s Law http://goo.gl/Sjeum
Bradford’s law http://goo.gl/bdNjG
Heaps law http://goo.gl/u6H2F
CACCACCATTACCACCAT
9. Interval position analysis (IPA)
IPA characteristic based on distance between simular elements
N M M N V M V V N M N V
A L L A B L B B A L A B
F G G F H G H H F G F H
1 2 2 1 3 2 3 3 1 2 1 3
1 - - 1 - - - - 1 - 1 -
∆11 ∆12 ∆13 ∆14
10. Interval position analysis (IPA)
IPA characteristics
nj
m
V j =∏ Δ ij V =∏ V j
i=1
j=1
nj m nj
G j =∑ log 2 Δ ij G=∑ ∑ log 2 Δ ij
i =1 j =1 i=1
nj m
1 nj
g j = ∑ log Δ ij g =∑ log Δ gj
n j i=1 j=1 n
r= Δ g / D