Questions tagged [human-genome]

The 23 chromosome pairs, made up of 3 billion base-pairs, 22 chromosomes of which are autosomal and one which is an allosome, or sex chromosome.

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If a DNA letter is one of A,T,C and G, and there are 3 billion base pairs, why don't we say that there are 6 billion letters in the genome?

A DNA letter is either one of A,T,C or G. Human genome is supposed to have 3 billion base pairs coming from each parent. But these are pairs - a combination of A-T or C-G. So, doesn't that make the ...
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Generating custom human DNA sequences based on traits such as eye colour?

I'm wondering if it would be possible to create software (unless some already exists, but I couldn't find any) to generate human DNA (the base pairs on the double helix) containing genes representing ...
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163 views

What's the longest intron in the human genome?

What's the longest intron in the human genome? Discarding isoforms were a long intron spans more than one exon, i.e. what's the longest distance between two exons without another exons in between.
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Amount of Heterozygosity

How many loci in the human genome are heterozygous? How about other species? EDIT: I was wondering, considering for example the whole world population, how many of the human genes actually have two ...
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How do I interpret SNP nomenclature?

I am combing through my 23 & me raw data and I am a little confused on SNP terminology. I am using NCBI's genome browser and SNP database. As an example we can all follow here is a link to a ...
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What is the relationship between DNA molecules and the chromosomes? [closed]

Regarding the human genome, if the DNA molecule is two continuous strands, with each gene occupying a segment in it, and there are 46 chromosomes each with some genes, where is the physical boundary ...
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1answer
44 views

HAR1 speedy mutation

From wiki: Human accelerated region 1 (HAR1) is a segment of the human genome found on the long arm of chromosome 20. It is a Human accelerated region. [..] These 49 regions represent parts of the ...
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1answer
91 views

What's the difference between CREs and DHSs?

I would like to know what's the difference between cis-regulating elements and DNase I–hypersensitive sites, in order to produce a meaningful segregation of non coding elements affecting gene ...
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Referencing the homologous chromosomes

There exist a co-ordinate system from chromosomes like "12p11.3". In this system, first integer range from 1 to 23 i.e it takes homologous chromosomes as a pair. If we want to distinguish among ...
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mouse gene translated to human gene

I have a list of mouse genes, but all our analysis happens for human genes. Is that possible to translate these mouse genes to human genes? and is there any tool that can help me on this? I am ...
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191 views

Interpreting SNP-in-gene associations from GWAS studies

For most SNPs identified in GWAS studies, is the underlying assumption that if it is indeed associated with a phenotype (and lets assume its associated because it affects protein function), that you ...
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How to determine which allele GRCh37 has?

is there a website where I can search GRCh37 by location or rs IDs, to determine which allele it has at a specific location? I think http://grch37.ensembl.org/ might be the answer to my question, but ...
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Hardy–Weinberg equilibrium for SNPs

I have a SNP stats file structure, which contains all information about genotypes and imputed SNP/INDEL imputation qualities, allele frequencies and minor allele assignment. ...
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chromosome 19 and recombination

Im doing a project with structural variation created by recombination within the human genome during spermatogenesis, where im especially examining intrachromatid homolog recombination. I find that ...
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If some humans inherited 3% of Neanderthal DNA, why are we 99.9% same genome? [duplicate]

Many sources say that humans are 99.5 to 99.9 percent the same. Also some sources state that some humans have 3.4% Neanderthal DNA and some don't share those genes. Why is that?
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Balancing selection vs introgression?

Balancing selection can maintain polymorphisms in natural populations for extended periods of evolutionary time. However, in this paper, Dannemann et al. 2016 identify three archaic haplotypes in the ...
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What percentage of a complete Denisovan genomes lives on in the union of the sets of overlapping pieces in extant humans

In studies like this one mapping out distributions around the world or the analysis described in this article (suggesting a contribution from a non-Denisovan but Denisovan-like unidentified hominin to ...
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Insertion of synthetic DNA sequence

If I have some synthetic DNA sequence (<=20 bp long), is there a way for me to reliably insert this sequence next to some n-bp motif? I'd like for this to be possible in humans. If so, are there ...
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Will someone with a double mutation in the allosomes be normal?

Normally a female human has an X allosome from her father and an X allosome form her mother. What if an double mutation happened, which causes that someone has two X allosomes form her mother and no ...
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condensed protocol for sequencing a portion of human DNA from buccal sample

Anyone have a short & sweet protocol for PCR amplifying a region of human DNA (chromosomal or mt, I don't care) extracted from a buccal sample: including validated primer sequences and preferred ...
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What physical traits are derived from the Neanderthal DNA in human DNA?

Some researches had found that Human DNA has a bit of Neanderthal DNA. So they suggested there would have been crossing between Homo sapiens and Neanderthals. Now the Neanderthal looked a bit ...
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Genome Project Focusing on gene ADRB2?

I am not sure which project database to use UCSC or Ensembl for my asthma study about ADRB2 gene (Arg/Arg-16 genotype). I am using the original Human Genome Project database at the moment. However, I ...
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Embryonic cells, when can you detect them in vivo? (In order to do whole genome sequencing)

I was wondering, when is it possible to extract cells (humans or mice) in order to sequence them and detect diseases. Extra: Urine of the embryo in humans is excreted in the 16th week, so I guess that ...
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Are viruses ever manufactured directly from viral DNA embedded in the genome?

Some viruses can cause their genetic material to be pemanently stored in the human genome -- even getting passed on to offspring. Endogenous Retroviruses, for example are thought to make up between 5~...
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Can a plasmid cause cancer? [closed]

Can a plasmid cause cancer? According to wikipedia, plasmids are normally present in bacteria They (plasmids) are normally present in bacteria , and sometimes in eukaryotic organisms such as yeast [...
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186 views

haplotype data for 1000 Genomes

I need to get haplotype data for HapMap or 1000 Genomes for CEU, MKK, TSI, CHB and JPT for ± 1 Mb at LCT gene. I'm quite new in the area. Actually I don't know the meaning of "± 1 Mb". From which ...
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No. of genes in chromosomes. phenotype

Why do cells need all the genes of all the 22 pairs (excluding the 2 X- or Y-chromosomes) of autosomes in every somatic cell, when each and every cell which is specialised for its function does not ...
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Where can I find a file listing the genetic differences in humans?

I don't know much about genetics. For an arts project I'm looking for a human genome. I read that: Only about 0.1% of the genome is different among individuals, which equates to about 3 million ...
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218 views

why dna polymerase 3 requires a primer for replication [duplicate]

Why DNA polymerase 3 needs a primer to star replication.And whats happens when there is no AUG sequence on entire DNA.
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269 views

Chromatids in metaphase?

Please see the following picture: In my book, the author claims that these chromosomes are in metaphase (a metaphase stopped by cholchicin). I don't understand why they don't have two chromatids...A ...
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Why do genetic testing companies (FTDNA,AncestryDNA,23andme) express DNA shared in centimorgans (cM) instead of in number of base pairs or in percent?

Expressing DNA shared in number of base pairs or in percent of total genome would be so much simpler and easier to understand for the customers. .
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How our body produce different T-cells?

I've heard in many documents said that : There are 25 million to a billion different T-cells in your body. Each cell has a unique T-cell receptor that can fit with only one kind of antigen - ...
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Similarity between the human genome and archea genome in deep sea hydrothermal vents?

I'm trying to find some reference that shows what percentage of the human genome is similar to some organism from the domain Archea that lives near or on deep sea hydrothermal vents. Can someone ...
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Can convergent evolution be used to explain similarity of genome of low and high Species e g. gorilla and human?

Example: 1) molecule Rhodopsin in halobacteria for producing energy from light. 2) molecule Rhodopsin for vision in human. These are said to be of different lineages and their high similarity are due ...
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Basic questions about human genome project [closed]

The "human genome" was sequenced by the Human Genome Project around 2000. But I don't understand what was done and what its significance is. Questions: Wasn't a single person's genome sequenced? I....
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How do different genes on human genome express themselves?

It is said that human genome contains over twenty five thousand genes, How many of these (can) express themselves as an external or internal trait in human beings (for e.g. like eye-colors, hair ...

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