Human genome

genomehuman DNAhuman geneticistprotein-coding genesHumanhuman chromosomeshuman genomicHuman genomicspersonal genomeprotein coding genes
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.wikipedia
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Mitochondrial DNA

mtDNAmitochondrialmitochondrial genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
Human mitochondrial DNA was the first significant part of the human genome to be sequenced.

Human Genome Project

human genomeELSIsequencing of the human genome
The first human genome sequences were published in nearly complete draft form in February 2001 by the Human Genome Project and Celera Corporation.
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.

Genome

genomesgenetic materialgenomic
Human genomes include both protein-coding DNA genes and noncoding DNA.
A major step toward that goal was the completion in 2007 of the full genome of James D. Watson, one of the co-discoverers of the structure of DNA.

Human

humanshuman beinghuman beings
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
A rough and incomplete human genome was assembled as an average of a number of humans in 2003, and currently efforts are being made to achieve a sample of the genetic diversity of the species (see International HapMap Project).

Alternative splicing

alternatively splicedtranscript variantssplice variant
The number of proteins is based on the number of initial precursor mRNA transcripts, and does not include products of alternative pre-mRNA splicing, or modifications to protein structure that occur after translation.
Notably, alternative splicing allows the human genome to direct the synthesis of many more proteins than would be expected from its 20,000 protein-coding genes.

Human genetic variation

human biodiversitygenetic differencesgenetic variation
Variations are unique DNA sequence differences that have been identified in the individual human genome sequences analyzed by Ensembl as of December 2016.
As of 2017, there are a total of 324 million known variants from sequenced human genomes.

Genome Project-Write

HGP-Writesynthetic human genomeThe Human Genome Project–Write
In June 2016, scientists formally announced HGP-Write, a plan to synthesize the human genome.
The Genome Project - Write (also known as GP-Write) is a large-scale collaborative research project (an extension of Genome Projects, aimed at reading genomes since 1984) which focuses on the development of technologies for the synthesis and testing of genomes of many different species of microbes, plants, and animals, including the human genome in a sub-project known as Human Genome Project-Write (HGP-Write).

Base pair

base pairsbpMbp
Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content.
The haploid human genome (23 chromosomes) is estimated to be about 3.2 billion bases long and to contain 20,000–25,000 distinct protein-coding genes.

Wellcome Sanger Institute

Wellcome Trust Sanger InstituteSanger InstituteSanger Centre
Table 1 (above) summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute.
It was conceived as a large scale DNA sequencing centre to participate in the Human Genome Project, and went on to make the largest single contribution to the gold standard sequence of the human genome.

Personal genomics

genome analysisPersonal Genomecomputational analysis
The number of identified variations is expected to increase as further personal genomes are sequenced and analyzed.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual.

Reference genome

reference assemblyGenome referenceHuman reference genome
Table 1 (above) summarizes the physical organization and gene content of the human reference genome, with links to the original analysis, as published in the Ensembl database at the European Bioinformatics Institute (EBI) and Wellcome Trust Sanger Institute. Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table.
For example, GRCh37, the Genome Reference Consortium human genome (build 37) is derived from thirteen anonymous volunteers from Buffalo, New York.

Ploidy

diploidhaploid2n
Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content.
Human diploid cells have 46 chromosomes (the somatic number, 2n) and human haploid gametes (egg and sperm) have 23 chromosomes (n).

Bioinformatics

bioinformaticbioinformaticianbio-informatics
Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products.
For a genome as large as the human genome, it may take many days of CPU time on large-memory, multiprocessor computers to assemble the fragments, and the resulting assembly usually contains numerous gaps that must be filled in later.

DNA

deoxyribonucleic aciddouble-stranded DNAdsDNA
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content.
The set of chromosomes in a cell makes up its genome; the human genome has approximately 3 billion base pairs of DNA arranged into 46 chromosomes.

Chromosome 11

11human chromosome 1111p
At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome.

Ribosomal RNA

rRNAribosomalrRNAs
These include: ribosomal RNAs, or rRNAs (the RNA components of ribosomes), and a variety of other long RNAs that are involved in regulation of gene expression, epigenetic modifications of DNA nucleotides and histone proteins, and regulation of the activity of protein-coding genes.
Humans have 10 clusters of genomic rDNA which in total make up less than 0.5% of the human genome.

DNA sequencing

DNA sequencesequencesequencing
However, there are still numerous gaps in the heterochromatic parts of the genome which is much harder to sequence due to numerous repeats and other intractable sequence features.
The rapid speed of sequencing attained with modern DNA sequencing technology has been instrumental in the sequencing of complete DNA sequences, or genomes, of numerous types and species of life, including the human genome and other complete DNA sequences of many animal, plant, and microbial species.

Y chromosome

Y-chromosomeY-DNAY
With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome.

ENCODE

modENCODEEncyclopedia of DNA ElementsENCODE Project
The exploration of the function and evolutionary origin of noncoding DNA is an important goal of contemporary genome research, including the ENCODE (Encyclopedia of DNA Elements) project, which aims to survey the entire human genome, using a variety of experimental tools whose results are indicative of molecular activity.
The Encyclopedia of DNA Elements (ENCODE) is a public research project which aims to identify functional elements in the human genome.

Nucleic acid sequence

DNA sequencesnucleotide sequencegenetic information
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
The human genome is believed to contain around 20,000 - 25,000 genes.

Human evolution

evolutionearly manevolution of humans
Such genomic studies have lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.
Human evolutionary genetics studies how one human genome differs from the other, the evolutionary past that gave rise to it, and its current effects.

MicroRNA

miRNAmicroRNAsmiRNAs
These include: microRNAs, or miRNAs (post-transcriptional regulators of gene expression), small nuclear RNAs, or snRNAs (the RNA components of spliceosomes), and small nucleolar RNAs, or snoRNA (involved in guiding chemical modifications to other RNA molecules).
The human genome may encode over 1900 miRNAs, although more recent analysis indicates that the number is closer to 600.

Protein

proteinsproteinaceousstructural proteins
Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA genes, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been determined.
The development of such tools has been driven by the large amount of genomic and proteomic data available for a variety of organisms, including the human genome.

BRCA2

FANCD1breast cancer 2BRCA 2
By repairing DNA, these proteins play a role in maintaining the stability of the human genome and prevent dangerous gene rearrangements that can lead to hematologic and other cancers.

Chromosome

chromosomeschromosomalChromosomal number
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
Sequencing of the human genome has provided a great deal of information about each of the chromosomes.