Thousands of experiments and studies use the human reference genome as a resource each year. This single reference genome, GRCh38, is a mosaic created from a small number of individuals, representing a very small sample of the human population. There is a need for reference genomes from multiple human populations to avoid potential biases. Here, we describe the assembly and annotation of the genome of an Ashkenazi individual and the creation of a new, population-specific human reference genome. This genome is more contiguous and more complete than GRCh38, the latest version of the human reference genome, and is annotated with highly similar gene content. The Ashkenazi reference genome, Ash1, contains 2,973,118,650 nucleotides as compared to 2,937,639,212 in GRCh38. Annotation identified 20,157 protein-coding genes, of which 19,563 are | 99% identical to their counterparts on GRCh38. Most of the remaining genes have small differences. Forty of the protein-coding genes in GRCh38 are missing from Ash1;
An international team of more than 1,000 scientists participated in a new study showing an integrated map of genetic variation from 1,092 human genomes.. A newly published compendium of the genetic alphabets of more than 1000 individuals from around the world illustrates how similar humans are - but also how crucial genetic variations can be.. The publication on November 1 in the journal Nature of the 1000 Genomes Project provides the most comprehensive catalog of human variations to date and will be indispensable to the practice of personalized medicine.. Sequencing an individuals DNA is useless in medicine unless there is a frame of reference to compare it to, said Yale Universitys Mark Gerstein, the Albert L. Williams Professor of Biomedical Informatics and one of more than 1,000 scientists who participated in international effort.. An individual human genome contains on an average 3 million variations. Without a reference library of variations, trying to hone in on the most informative ...
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
The Society runs two themed meetings each year as satellites to either the American or European Societies of Human Genetics annual meeting as a forum for scientists to exchange ideas and form collaborations. Prominent speakers in the field are invited. The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. We invite members and non-members alike to attend these meetings.. FORTHCOMING HGVS MEETINGS ...
TY - JOUR. T1 - A map of human genome variation from population-scale sequencing. AU - Altshuler, David L.. AU - Durbin, Richard M.. AU - Abecasis, Gonçalo R.. AU - Bentley, David R.. AU - Chakravarti, Aravinda. AU - Clark, Andrew G.. AU - Collins, Francis S.. AU - De La Vega, Francisco M.. AU - Donnelly, Peter. AU - Egholm, Michael. AU - Flicek, Paul. AU - Gabriel, Stacey B.. AU - Gibbs, Richard A.. AU - Knoppers, Bartha M.. AU - Lander, Eric S.. AU - Lehrach, Hans. AU - Mardis, Elaine R.. AU - McVean, Gil A.. AU - Nickerson, Debbie A.. AU - Peltonen, Leena. AU - Schafer, Alan J.. AU - Sherry, Stephen T.. AU - Wang, Jun. AU - Wilson, Richard K.. AU - Deiros, David. AU - Metzker, Mike. AU - Muzny, Donna. AU - Reid, Jeff. AU - Wheeler, David. AU - Wang, Shenzhen Jun. AU - Li, Jingxiang. AU - Jian, Min. AU - Li, Guoqing. AU - Li, Ruiqiang. AU - Liang, Huiqing. AU - Tian, Geng. AU - Wang, Bo. AU - Wang, Jian. AU - Wang, Wei. AU - Yang, Huanming. AU - Zhang, Xiuqing. AU - Zheng, Huisong. AU - ...
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data
Since the completion of the Human Genome Project in 2003, it is estimated that more than 200,000 individual whole human genomes have been sequenced. A stunning accomplishment in such a short period of time. However, most of these were sequenced without experimental haplotype data and are therefore missing an important aspect of genome biology. In addition, much of the genomic data is not available to the public and lacks phenotypic information. As part of the Personal Genome Project, blood samples from 184 participants were collected and processed using Complete Genomics Long Fragment Read technology. Here, we present the experimental whole genome haplotyping and sequencing of these samples to an average read coverage depth of 100X. This is approximately three-fold higher than the read coverage applied to most whole human genome assemblies and ensures the highest quality results. Currently, 114 genomes from this dataset are freely available in the GigaDB repository and are associated with rich ...
CALL FOR PAPERS Human Genomic Variation: Disease, drug response and clinical phenotypes January 3-7, 2002 Island of Kauai, Hawaii, USA A session of the Pacific Symposium on Biocomputing 2002 The recent completion of the first assembly of the human genome has provided an invaluable tool for investigating the biology of our species. Several academic and industrial laboratories are working to add value to this raw genome sequence by generating DNA variation and gene expression data. However, researchers are encountering substantial challenges regarding the management, annotation and analysis of this information. Many of the critical issues involved in linking genetic variation to clinical phenotypes are complicated by a need to synthesize biological and computational expertise. For example, there is a need to apply and extend population genetic analyses to high- throughput data to elucidate underlying patterns of variation in the human genome. When operating at a high-throughput mode, extensive ...
There are 481 segments longer than 200 base pairs (bp) that are absolutely conserved (100% identity with no insertions or deletions) between orthologous regions of the human, rat, and mouse genomes. Nearly all of these segments are also conserved in the chicken and dog genomes, with an average of 95 and 99% identity, respectively. Many are also significantly conserved in fish. These ultraconserved elements of the human genome are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development. Along with more than 5000 sequences of over 100 bp that are absolutely conserved among the three sequenced mammals, these represent a class of genetic elements whose functions and evolutionary origins are yet to be determined, but which are more highly conserved between these species than are proteins and appear to be essential for the ontogeny of mammals and other vertebrates.
The stored 5.3 billion base pairs represent 2.58 billion base pairs of unique sequence which have been calculated to cover about 81 percent of an estimated genome size of 3.18 billion base pairs. These data, combined with all of the finished and draft human genome sequence data from the public databases, give Celera coverage of 90 percent of the human genome. The companys sequencing was performed on 300 PE Biosystems ABI Prism 3700 DNA Analysers.. The whole genome shotgun technique concentrates on sequencing the entire genome at once, allowing for real time discovery of human genes across the entire genome, according to J. Craig Venter, Ph.D., who is Celeras president and chief scientific officer. The early phase of sequencing the human genome using the whole genome shotgun process is especially important for gene discovery. Today, we are rapidly coming to an end of that phase. Our statistical analysis and comparison to known genes suggest that more than 97 percent of all human genes are ...
Release of the first human genome assembly was a landmark achievement, and after nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and compl
Watson-Crick base-pair changes, or single-nucleotide variants (SNV), have long been known as a source of mutations. However, the extent to which DNA structural variation, including duplication and deletion copy number variants (CNV) and copy number neutral inversions and translocations, contribute to human genome variation and disease has been appreciated only recently. Moreover, the potential complexity of structural variants (SV) was not envisioned; thus, the frequency of complex genomic rearrangements and how such events form remained a mystery. The concept of genomic disorders, diseases due to genomic rearrangements and not sequence-based changes for which genomic architecture incite genomic instability, delineated a new category of conditions distinct from chromosomal syndromes and single-gene Mendelian diseases. Nevertheless, it is the mechanistic understanding of CNV/SV formation that has promoted further understanding of human biology and disease and provided insights into human genome ...
Milestone crossed on the 15th anniversary of the completion of the Human Genome Project, as the worldwide estimate for whole human genomes sequenced approaches one million
Received January 23, 2003 The recent sequencing of the human genome, resulting from two independent global efforts, is poised to revolutionize all aspects of human health. This landmark achievement has also vindicated two different methodologies that can now be used to target other important large genomes. The human genome sequence has revealed several novel/surprising features notably the probable presence of a mere 30-35,000 genes. In depth comparisons have led to classification of protein families and identification of several orthologues and paralogues. Information regarding non-protein coding genes as well as regulatory regions has thrown up several new areas of research. Although still incomplete, the sequence is poised to become a boon to pharmaceutical companies with the promise of delivering several new drug targets. Several ethical concerns have also been raised and need to be addressed in earnest. This review discusses all these aspects and dwells on the possible impact of the human ...
The human genome is by far the largest genome to be sequenced, and its size and complexity present many challenges for sequence assembly. The International Human Genome Sequencing Consortium constructed a map of the whole genome to enable the selection of clones for sequencing and for the accurate a …
View Notes - SNPsW11 from BIMM 101 at UCSD. How much does DNA sequence vary among humans? Some estimates are that human genome 99.5 - 99.9% similar among individuals Human genome about 3,000,000,000
BRISBANE, Australia - Scientists from the University of Queensland report in the journal Genome Research that large segments of the human genome are conspicuously devoid of ubiquitous mobile DNA elements called transposons. The locations of these regions are highly conserved among mammalian species and are enriched in genes crucial for the regulation of developmental processes. Transposons, often called jumping genes, are DNA sequences that have the capacity to move from one chromosomal site to another. More than three million copies of transposons have accumulated in humans throughout the course of evolution and now comprise an estimated 45% of the total DNA content in the human genome. These mobile genetic elements are scattered throughout the human genome - separated, on average, by only 500 base pairs. But Dr. John Matticks laboratory at the University of Queensland, Australia, identified long tracks of genomic segments (greater than 10 kilobases in length) that lack transposable ...
Of course the biggest hook of this announcement has been that Illumina is claiming to have made possible, for the first time ever (others have claimed this but failed to deliver), a sequenced human genome for under $1,000. Now of course this claim comes with a bit of a caveat. According to Illumina, running a single sample (so a single human genome) will cost about $800 in reagents, so technically a single human genome will cost less than $1,000. However, these machines are selling for $1 million each, and you have to purchase them in sets of ten, so the machine cost up front will be about $10,000,000. After you consider the costs associated with preparing the DNA for sequencing, the costs associated with maintaining and running the machines, and the analyses required for the data, it seems like we may be getting out of that $1,000 range. I have not done the math, so I cant give you a detailed explanation or say exactly what the cost is going to be. Fortunately another blogger outlined some ...
Jasper D. Rine was named on May 13 the Acting Director of the Human Genome Center at Lawrence Berkeley Laboratory (LBL) and to a position in the LBL Cell and Molecular Biology Division, of which the center is a major component. Rine will maintain his current professorship of genetics at the University of California, Berkeley (UCB), which he joined in 1982.. The Human Genome Center at LBL is an opportunity to establish for the biology community the same synergistic relationship between LBL and the UCB campus that exists in physics and chemistry, Rine said. The Berkeley environment is one of the few places where a major research university and a major DOE facility are physically adjacent, and I believe this proximity can foster interaction to catalyze new scientific discoveries. Rine expects to add an emphasis on genetics and genetic analysis to the current strengths in instrumentation, informatics, and physical mapping.. As a member of the LBL Human Genome Center Advisory Committee, Rine will ...
This post was published earlier on ZYX Buy Change Alert. Last year Human Genome Sciences Inc. (HGSI) successfully introduced the first new treatment for Lupus in a very long time. GlaxoSmithKline (GSK), the big drug giant, is Human Genomes partner.. Human Genome has disclosed that it received an unsolicited $13.00 per share cash offer from GlaxoSmithKline.. It is likely that the deal will ultimately get done at a premium to the present bid of $13.00 per share.. Buy zone is $12.50 to $13.56. To control risk consider not exceeding 20% of full core position size. Stop zone is$11.48 to $11.75. Target zone is $16 to $18.. Caution: Consider not chasing the price even at the risk of missing the trade. Further it is important to keep the position small because of the risk involved. There is no guarantee that a deal will done.. ...
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., OMeara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G., Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.. Cancers arise owing to mutations in a subset of genes that confer growth advantage. The availability of the human genome sequence led us to propose that systematic resequencing of cancer genomes for mutations would lead ...
The latest issue of Nature is just as it should be: nearly wall-to-wall human genomics, with a special focus on personal genomics (more on that later).. The main event is a potential historical milestone: quite possibly the last two papers ever to be published in a major journal describing the sequencing of single human genomes from healthy individuals1. The papers, which both appear to be open access (kudos to Nature for that decision) describe the analysis of the first Asian genome by researchers at the Beijing Genomics Institute, and the sequencing of the first African genome by a cast of thousands centred around next-gen sequencing company Illumina. Both genomes were sequenced using next-generation sequencing technology from Illumina, which generates sequence information in the form of very short (35-50 base pair) reads. Although each read is extremely short and relatively error-prone compared to reads from old-fashioned sequencing methods, the sheer number of reads generated by the Illumina ...
The mission of CDCs Public Health Genomics is to integrate advances in human genetics into public health research, policy, and programs
Arrayit Dendritic & Antigen Presenting Cell Pathways™ Focused Human Genome Microarrays contain 89 genes selected for targeted studies of the human dendritic & antigen presenting cell pathway. Arrayit Pathways™ Microarrays gene content is derived from our H25K Whole Human Genome Microarray constructed using highly optimized and unique long-mer oligonucleotides designed to maximize detection of the greatest number of cellular transcripts in the human transcriptome with
In a study appearing in PLoS Genetics, a Stanford University-led team described the ethnicity-specific reference genome approach it used to analyze whole genome sequences from four members of a single family.. By incorporating estimated allele frequency data from the 1000 Genomes Project into the existing human reference genome, the researchers came up with three synthetic human genome references containing the major alleles identified in European, African, or East Asian populations - a strategy thats intended to more accurately represent the genetic variation present in each of the major HapMap populations.. There has been a large focus, at least in the genome-wide association study space, on Caucasian populations, first author Frederick Dewey, a researcher at Stanford Universitys Center for Inherited Cardiovascular Disease, told GenomeWeb Daily News. What we hope to show is that ethnicity certainly matters - it begins at the point of genome assembly and carries all the way through ...
In just the span of an average lifetime, science has made leaps and bounds in our understanding of the human genome and its role in heredity and health-from the first insights about DNA structure in the 1950s to the rapid, inexpensive sequencing technologies of today. However, the 20,000 genes of the human genome are more than DNA; they also encode proteins to carry out the countless functions that are key to our existence. And we know much less about how this collection of proteins supports the essential functions of life.. In order to understand the role each of these proteins plays in human health-and what goes wrong when disease occurs-biologists need to figure out what these proteins are and how they function. Several decades ago, biologists realized that to answer these questions on the scale of the thousands of proteins in the human body, they would have to leave the comfort of their own discipline to get some help from a standard analytical-chemistry technique: mass spectrometry. Since ...
By Boonsri Dickinson. Long before he could grow his signature beard, geneticist George Church fantasized about sequencing the genomes of mankind.. Today, that dream is a reality.. Three years before anyone else thought to sequence genomes -- 1987, to be precise -- Church was in his Harvard University laboratory unraveling the DNA data code.. Hype is mounting for the 10-year anniversary of the announcement of the first draft of the human genome, officially this June.. But Church admits that hes not at all impressed -- despite $3 billion already invested, humanity is far from completely decoding the human genome.. Perhaps no one has seen genomics as up-and-close as Church, who became his own guinea pig in thePersonal Genome Project, or PGP. To date, the project counts more than 16,000 volunteers -- but only a select dozen has made their genetic and medical history public.. Eventually, 100,000 people will be sequenced through the project.. This week, Church is in Steamboat Springs, Colorado, where ...
One of most striking discoveries to arise from comparative genomic studies of the human genome is that the majority of functional sequences that have been under purifying selection during mammalian evolution do not encode proteins (1). Specifically, comparative genomics of the human, dog, mouse, and rat (HDMR) has revealed that ≈5-6% of the human genome is under purifying selection, but only 1-2% of this sequence is attributable to protein-coding sequences. The remainder consists of conserved noncoding elements (CNEs). Intense interest has focused on trying to decipher the function of these CNEs, which are likely to control gene regulation, chromosome structure, and other key functions.. Deciphering the function of the CNEs is particularly challenging because the vast majority seem to be unique in the genome; so far, no large families of similar CNEs have been discovered. For example, a study of the mammalian CNEs within a 1.8 Mb region containing the cystic fibrosis gene (CFTR) found the vast ...
The human genome-the sum total of hereditary information in a person-contains a lot more than the protein-coding genes teenagers learn about in school, a massive international project has found. When researchers decided to sequence the human genome in the late 1990s, they were focused on finding those traditional genes so as to identify all the proteins necessary for life. Each gene was thought to be a discrete piece of DNA; the order of its DNA bases-the well-known letter molecules that are the building blocks of DNA-were thought to code for a particular protein. But scientists deciphering the human genome found, to their surprise, that these protein-coding genes took up less than 3% of the genome. In between were billions of other bases that seemed to have no purpose. Now a U.S.-funded project, called the Encyclopedia of DNA Elements (ENCODE), has found that many of these bases do, nevertheless, play a role in human biology: They help determine when a gene is turned on or off, for example. ...
Folder 2: Correspondence and papers relating to the sequencing of the human genome. Includes papers relating to Bodmer, W.F. (1987) The human genome sequence and the analysis of multifactorial traits. In Molecular Approaches to Human Polygenic Diseases, Volume 130, Ciba Foundation, ed. (Chichester: J Wiley & Sons), pp. 215-228 ...
Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population-specific variation and disease susceptibility loci. Here, choosing a DNA sample from a population of interest due to its relative geographical isolation and genetic impact on further populations, we extend the above studies through the generation of 11-fold coverage of the first Irish human genome sequence. Using sequence data from a branch of the European ancestral tree as yet unsequenced, we identify variants that may be specific to this population. Through comparisons with HapMap and previous genetic association studies, we identified novel disease-associated variants, including a novel nonsense variant putatively associated with inflammatory bowel disease. We describe a novel method for improving SNP calling accuracy at low genome coverage using haplotype information. This analysis has implications for future re-sequencing studies and validates the imputation of Irish haplotypes
Anne Trafton, MIT News Office. Only about 1 percent of the human genome contains gene regions that code for proteins, raising the question of what the rest of the DNA is doing. Scientists have now begun to discover the answer: About 80 percent of the genome is biochemically active, and likely involved in regulating the expression of nearby genes, according to a study from a large international team of researchers.. The consortium, known as ENCODE (which stands for Encyclopedia of DNA Elements), includes hundreds of scientists from several dozen labs around the world. Using genetic sequencing data from 140 types of cells, the researchers were able to identify thousands of DNA regions that help fine-tune genes activity and influence which genes are expressed in different kinds of cells.. Just as the sequencing of the human genome helped scientists learn how mutations in protein-coding genes can lead to disease, the new map of noncoding regions should provide some answers on how mutations in the ...
Detailed explorations of the human genome are showing that individual genes may have complex structures, and that much of what had been called junk DNA is not junk at all.
New, higher-quality assemblies of great ape genomes have now been generated without the guidance of the human reference genome. The effort to reduce humanizing discovery bias in great ape genomes provides a clearer view of the genetic differences that arose as humans diverged from other primates. In the June 8 issue of Science, researchers report on improved orangutan and chimpanzee genomes that were built from scratch using long-read PacBio sequencing and long-range mapping technology.
We report that 18 conserved, and by extension functional, elements in the human genome are the result of retroposon insertions that are evolving under purifying selection in mammals. We show evidence that 1 of the 18 elements regulates the expression of ASXL3 during development by encoding an altern …
In order to contribute to the establishment of a complete map of transcribed regions of the human genome, we constructed a testicular cDNA library for the cynomolgus monkey, and attempted to find novel transcripts for identification of their human homologues. The full-insert sequences of 512 cDNA clones were determined. Ultimately we found 302 non-redundant cDNAs carrying open reading frames of 300 bp-length or longer. Among them, 89 cDNAs were found not to be annotated previously in the Ensembl human database. After searching against the Ensembl mouse database, we also found 69 putative coding sequences have no homologous cDNAs in the annotated human and mouse genome sequences in Ensembl. We subsequently designed a DNA microarray including 396 non-redundant cDNAs (with and without open reading frames) to examine the expression of the full-sequenced genes. With the testicular probe and a mixture of probes of 10 other tissues, 316 of 332 effective spots showed intense hybridized signals and 75 cDNAs were
Among the 518 kinases identified in the human genome are many exciting targets for cancer drug discovery (22). Molecular alterations in numerous kinases have been documented to drive malignant proliferation either via overexpression or activation, the latter secondary to an acquired mutation. Where dependence on a kinase is essential to the phenotype of a tumor, the term oncogene addiction has been coined. It is interesting that where such oncogene addiction is observed, the kinase inhibitors can have dramatic effects, whereas a lesser effect is observed on cells with mere overexpression of the target. An example of this is the activity of gefitinib or erlotinib in lung cancers with or without mutations in epidermal growth factor receptor (23). Can this be considered cytotoxicity on the one hand but cytostasis on the other? On examination of these agents, it becomes clear that the outcome, cytostasis or cytotoxicity, may depend less on the agent and more on the cellular context, especially the ...
While we cannot exclude entirely the possibility of off target modifications in addition to on target cleavage, we believe it represents a relatively low and controllable risk, as a number of recent publications have demonstrated that the CRISPR-Cas9 system is to be highly specific (e.g. Cencic et al).. Further to this a collaborator group have published a paper where they examine off-targets in the HAP1 cell line and observe very low frequencies.. At Horizon, to mitigate the risk still further our in-house selection algorithms warrant that only those guide RNAs with minimal predicted off-target sites in the human genome are chosen. Further to this, scientists can control their experiments through the use of multiple, independent clones or rescue of the knockout with a wild-type cDNA.. ...
So this week, in over 30 different journals, a detailed study was reported on the nature of the over 3 billion nucleotides (the fundamental building blocks of genes and thus of DNA) that make up the human genome. In the turn of this century, the human genome was completely sequenced (identified at the nucleotide level). …
Video created by Novosibirsk State University for the course From Disease to Genes and Back. This week you will learn about human genome organisation. This week is very important as all this knowledge will form a basis for all of the ...
Human Genome Sciences Inc. has decided to drop one of its three late-stage development drugs after feedback from the U.S. Food and Drug Administration indicated it was not likely to be approved. The company said Tuesday it would stop development .... Tagged with: FDA human genome sciences. Read More » ...
Deals with the agreement between Human Genome Sciences Inc. and Aventis Behring L.L.C. to co-develop and jointly market an Aventis Behring plasma protein product. Reports that Human Genome Sciences, Inc. and Aventis Behring L.L.C. have signed a development and commercialization agreement to co-develop and jointly market an Aventis Behring blood plasma protein product. Possible product advantages of linking a therapeutic plasma protein with albumin; Contact information ...
Manhattan Beach, California. These are not simply my claims: The preponderance of scientifically verified biological data do not support the substructure of human populations into any discrete, internally consistent racial subgroups. When sampled adequately, the genetic differences in populations dissolve into a continuum of variation. The partitioning of humans into biological races was permissible when the knowledge of our genetic inheritance was based on less than 0.1 percent of the human genome. However, based on data now available, we see that the sequence of the 3 billion nucleotides in any individual genome is unique in comparison with the sequence of another individuals genome, while the degree of sequence similarity between the 3 billion nucleotides in any two genomes is remarkably high. The uniqueness of the individual human genome in the presence of extreme similarity between any two genomes challenges the concept of human races. The reader implies that a scientist cannot be both ...
Centromeric alpha satellite (AS) is composed of highly identical higher-order DNA repetitive sequences, which make the standard assembly process impossible. Because of this the AS repeats were severely underrepresented in previous versions of the human genome assembly showing large centromeric gaps. The latest hg38 assembly (GCA_000001405.15) employed a novel method of approximate representation of these sequences using AS reference models to fill the gaps. Therefore, a lot more of assembled AS became available for genomic analysis. We used the PERCON program previously described by us to annotate various suprachromosomal families (SFs) of AS in the hg38 assembly and presented the results of our primary analysis as an easy-to-read track for the UCSC Genome Browser. The monomeric classes, characteristic of the five known SFs, were color-coded, which allowed quick visual assessment of AS composition in whole multi-megabase centromeres down to each individual AS monomer. Such comprehensive annotation of AS
Razib points me to a great plain-language article reviewing our current scientific understanding of human genetic variation. The major focus is on copy-number variants (CNVs) - genetic variants involving the insertion or deletion of large chunks of DNA, sometimes spanning over a million bases. These large-scale variants lurked essentially unknown within the human genome until […]
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Putting the Genome on the Map. The scale of the human genome is staggering. Our 80,000 genes account for only a small part of the delicate thread of three thousand million bases of sequence that we carry on our chromosomes. Encoded within this part of the sequence are the Instructions for making a complete set of proteins that drive all of the processes in our cells. We have almost no idea about what functions, if any, the rest of the sequence might have. Determining the sequence of the human genome - both that of the genes and that of the non-coding regions - is going to tell us much about our biology. However, there is also a lot that we will not be able to fathom from the sequence of the human genome alone. We need to broaden our horizons when thinking about the map of the human genome and the richness of information that we want it to contain. We need to understand how chromosome environment can perturb gene function every bit as effectively as mutation within gene sequence and how ...
DNA Transposons. pseudogenes. However, there is also a large amount of sequence that does not fall under any known classification.. Much of this sequence may be an evolutionary artifact that serves no present-day purpose, and these regions are sometimes collectively referred to as junk DNA. There are, however, a variety of emerging indications that many sequences within are likely to function in ways that are not fully understood. Recent experiments using microarrays have revealed that a substantial fraction of non-genic DNA is in fact transcribed into RNA,[6] which leads to the possibility that the resulting transcripts may have some unknown function. Also, the evolutionary conservation across the mammalian genomes of much more sequence than can be explained by protein-coding regions indicates that many, and perhaps most, functional elements in the genome remain unknown.[7] The investigation of the vast quantity of sequence information in the human genome whose function remains unknown is ...