Bioinformatics connects life sciences and quantitative sciences, typically involving the application of software and algorithms to solve computationally intensive questions, such as those in genomics, sequence analysis, and systems biology. Questions tagged Bioinformatics should have a direct ...

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Why the length of UTR in the genomic sequence of gene X is too much longer than the same region in the corresponding Refseq mRNA sequences?

I'm browsing in the UCSC genome browser and found that the UTRs length of KIAA0040 gene in the genomic sequences is too much longer than the corresponding the Refseq mRNA sequence. In fact, the total ...
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1answer
17 views

What is difference between several mRNA RefSeq for one gene?

I'm looking for mRNA RefSeq sequences for a given gene in the UCSC genome browser by searching gene name "HLA-F" in human (scroll to Refseq genes section). There are several RefSeq mRNA for the gene, ...
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2answers
22 views

Plot coverage per base for BAM file

I have a BAM file and a BED file for my own chromosome. I would like to get coverage per base and ideally construct a histogram of coverage across each gene. The motivation is to visualise the ...
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1answer
22 views

Determine if two molecule structures are the same molecule (perhaps in different conformations)?

I have two .pdb files describing two (small ligand) molecular structures. I need to determine if these two pdbs describe the same molecule, perhaps in different spatial conformations. Is there a ...
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1answer
18 views

Bioinformatics - DNA binding, sequence-specific protein data

I am a computer scientist and we are working on protein function prediction algorithms. Right now, we would like to examine protein-DNA binding properties computationaly. For this, we would make use ...
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24 views

What the definition of a flanking residue? [closed]

What the definition of a flanking residue? How do you define whether an amino acid is flanking or not? What are the environmental or physiochemical conditions in which a residue is considered to be ...
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1answer
23 views

Marker validation using transcriptome and genomic sequences derived from a single cell

I conducted a SSR marker analysis using bioinformatic tool on some RNA-seq data of human tissues. Now, my supervisor believed that we have to validate these SSR on a transcriptomic and genomic ...
2
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0answers
22 views

Why perform imputation?

Genetics datasets contain measurements for millions of single nucleotide polymorphisms (SNPs). Some (usually small) percentage of these values are of low confidence, and are labeled as missing values. ...
2
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1answer
39 views

Differential gene expression analysis between species

I have RNA Seq data from mouse and human skin ( 2 replicates each) and want to compare the expression of the orthologous genes to find any which are differentially expressed. I have quantile ...
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0answers
42 views

How does the brain store information? [duplicate]

In all electronic devices with the possibility of saving there are tiny magnets that can store your data by the state they are in. In general, there has to be something changed to store information ...
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1answer
44 views

Construct Phylogeny form Edgelist

I am working on large scale biodiversity simulations and have collected a lot of data on simulated phylogenies. I have a list of child-parent edgelist species in the form: ...
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0answers
18 views

How to model missing residues on a protein from multiple PDB files?

I have multiple X-ray structures (PDB files) of the same protein. All of them have missing stretches of residues. I want to use all of them to build a single model, with as little missing residues as ...
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0answers
16 views

Normalise protein database domain-wise

Suppose we've collected a big (hundreds of thousands) library of different protein sequences with certain features. Then we want to use this data base to train a classifier. And for several ...
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1answer
25 views

E value cutoff for RNASeq search

I am trying to narrow down the possible search criteria from an RNASeq experiment. I already have the cds sequences so I took these and used Blast+ program to blast the data against itself to find ...
2
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0answers
58 views

Do mutations come in pairs? [closed]

As DNA is organized in a double-helix, a change in one strand must be accompanied by a corresponding change in the other strand. Let's say an original sequence CATCAT mutates into CATGAT. The other ...
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0answers
32 views

How to get Population Genotype Frequency from 1000 genomes Perl API

Posted a similar question on Biostars but got no response. Not sure if I'm allowed to link to it? Basically I want to pull genotype frequency data for a population group (such as CEU) instead of ...
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2answers
62 views

Molecular graphics

anybody know of some great free molecular graphics systems that can allow for PDB code input? I prefer that it doesn't use Java. I also prefer that it is online, although if there is a great system ...
2
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1answer
21 views

Is there a good site or software to see if a primer pair spans an exon junction?

I am going to perform some RT-qPCR tests to validate an experiment.  I'm currently in the process of ordering primers, and I would like to get them from the Harvard Primer Bank since these have been ...
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0answers
9 views

What is the best aCGH normalization procedure for hyper-ploid tumor samples?

I'm currently working on aCGH data of Triple Negative Breast Cancer patients xenografts and primary tumor samples. A substantial amount of my samples is highly aberrated which leads to offsets of the ...
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1answer
29 views

What tools can help me determine if a plant homologous protein interacts with an ncRNA in the same way?

First post here, so bare with me if I violate any etiquette or formatting rules. Let's say I've got a protein in humans. When it interacts with an ncRNA found in humans, it does something that I'm ...
2
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1answer
59 views

What is the strand specificity of a reference genome?

It's a simple question but I've come across many people who have this question, is the reference genome Positive of Negative strand? Indeed, I've had heated arguments over the same issue. So here's ...
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3answers
69 views

Merge several .ab1 sequence files into a single FASTA file?

I have several .ab1 files generated from Chromas. I want to merge all of them into a single FASTA sequence file. How can I do this in an automated way? Note that I don't have Chromas installed (the ...
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1answer
50 views

A tool to get annotation features by position in the reference genome

Previously, when I needed to find a genomic feature (promoter, CDS, repeat etc) that underwent mutation (SNP) I used my own scripts to load an annotation file, parse it, map the SNP's position and ...
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2answers
913 views

Why and how does uniprot list ~150,000 proteins in the human genome?

Using organism:"Homo sapiens (Human) [9606]" as a query in uniprot returns ~146,000 proteins. I was under the impression that there were only 20-25,000 proteins in ...
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1answer
89 views

IC50 calculation [closed]

I am a computer science student and I'm in an internship at a genomics and biotechnologies research institute. My current task is to calculate the IC50 and the EC50 given a set of data as a table. ...
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1answer
52 views

How to compare two RNA transcripts?

In this paper, the cuffcompare RNA package is reported: Because of the stochastic nature of sequencing, assembly of the same transcript in two different samples may result in transfrags of ...
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0answers
52 views

Interpretation of qPCR results for low expression genes

I am attempting to validate existence of a transcript using 40 cycle qPCR. I designed primers for a unique feature of this transcript, and also designed primers for a sequence in the transcript that ...
0
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1answer
29 views

What does “each pathway define an independent genotype” mean?

In a section of this paper. However, if the question of independency is posed in the form: “Does each pathway shown define an independent genotype?,” then each of these three pathways is ...
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1answer
42 views

Are there journals for theoretical models of protein-protein interactions?

Are there respectable scientific journals for publishing models of protein-protein interactions obtained by docking simulations? I would also discuss the biological significance of the particular mode ...
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2answers
133 views

What are some (bioinformatic) methods to characterize potentially novel gene transcripts?

I am working with a few novel transcripts of genes- before I confirm their existence experimentally, I would like to perform some bioinformatic analysis. I have already considered coding potential, ...
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2answers
119 views

What are the programming languages important to learn for a geneticist or bioinformatician? [closed]

I am interested in learning more about both genomics and bioinformatics, with emphasis on genomics. I was told after taking an introductory course of genomics that the programming language "R" and ...
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1answer
42 views

Hodgin-Huxley model for a single neuron - continuation

As continuation to This question I have posted. Another set of questions is given for the same model : This time it is also given that for $t<0$ the membrane potential is $u_0$, and at $t=0$ it ...
2
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1answer
44 views

Extract protein sequences from a GBK(GenBank) file without scripting [closed]

How to extract protein sequences from a GBK(GenBank) file without scripting? I know that writting a script using BioPerl or Biopython can do this, but it is not elegant and daunting to beginners and ...
0
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1answer
31 views

How reliable is SwissProt topology?

I am using TOPO_DOM annotations from uniprot databases to characterise the orientation of transmembrane features. Is SwissProt topology experimentally validated, ...
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1answer
35 views

What is the difference between options protein and replication in the NCBI database?

After checking the NCBI help page, I am still unclear about the difference between protein and replication interactions for HIV. ...
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0answers
52 views

Efficient algorithm to calculate various population divergence statistics

Intro and description of the data I am simulating the evolution of very long DNA sequences. The model works well, is performant and will output data in the following kind of fasta format ...
4
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1answer
29 views

Which hydrophobicity scales are best for detecting transmembrane regions, and why?

There are many hydrophobicity scales for protein analysis. Broadly, I gather the differences between them are from the experimental method to acquire the data and the normalisation (or lack thereof) ...
0
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0answers
40 views

Cut-off values for LD, LOD and D-prime as algorithmic input

I created an algorithm to generate SNPs for random people of different descents - based on HapMap data. While this works good, there is something else I want to take into consideration. So if a SNP ...
2
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1answer
48 views

Design arbitrary degenerate primers (with non-binding criteria)

I would like to design a number of arbitrary degenerate primers (primers with variable bases, e.g. NGATWGCTSATNGC) for a TAIL-PCR. I would like to be able to ...
3
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2answers
48 views

Deciding a reasonable threshold for copy number variation in a CNV (SNP array) TCGA dataset

Is there a methodology to select a reasonable threshold for copy number variation in a CNV (SNP array) TCGA dataset, to define when there is a significative alteration? Can I download CNV data for ...
1
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2answers
66 views

What's read depth in VCF?

There is an attribute defined as DP (Total Depth) in VCF file format. For example, http://www.1000genomes.org/node/101. What does this attribute mean? If I get a value of like DP=128. How can be that ...
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1answer
47 views

What is enrichment? [closed]

Could someone please clarify, in layman's terms, what enrichment means? I'm currently looking at MACS and peak calling. Repeated mentions of "enriched" or "enrichment". Thanks.
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3answers
47 views

Patterns/Motifs Repository [closed]

I am new to this area. I am a researcher working on fast pattern searching in general scenarios (e.g., regex in string matching). I am curious about the "regular expression (regex)" (pattern/motif) ...
1
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1answer
118 views

best book for a comprehensive introduction to biology for a computer science graduate interested in undertaking research in bioinformatics [closed]

I have a postgraduate degree in computer science, and I wish to undertake research in bioinformatics. I had chemistry but no biology in high school. I have read bioinformatics books like "biological ...
1
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2answers
63 views

Introductory book in genetics? [duplicate]

I am working in the field of neuroscience with a background in computer science. I try to find new ways of analyzing brain imaging data (mostly MRI, EEG, MEG, fMRI) with modern machine learning ...
2
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1answer
47 views

How do I find the number of child terms associated with a specific GO term?

I am trying to figure out how to find the number of child terms associated with a specific Gene Ontology (GO) term using QuickGO, without just counting the amount of terms in a list. For example when ...
2
votes
1answer
62 views

GATK workflow for Cancer

I am just starting to learn to use bioinformatics tools. My university has a limited and expensive bioinformatics team, so I'm mostly on my own except for big questions. I am planning to use GATK to ...
5
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1answer
147 views

Sequence evolution simulation tool

I'm looking for a tool to simulate sequence evolution given a specific mutation model and birth-death model. I'm aware of tools and packages like INDELible, Seq-Gen and PhyloSim, but they simulate ...
1
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0answers
27 views

Load specific sequences in with BioSeqIO [closed]

I am trying to load a multifasta file with Perl using my $in = Bio::SeqIO->new( -file => $entrance) and then I loop trhough the file looking for id i ...
19
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3answers
1k views

120-year-old gene regulation problem independently solved by a computer. How?

My Background: I'm a mathematics graduate student with a physics background. I have a very little biology knowledge and a little knowledge of machine learning and statistics. Topic: I recently ...