CNVs vs. SNPs: Understanding Human Structural Variation in Disease
... has led to the identification of interesting genetic markers for certain disorders. But these small changes are not the whole picture. Copy number variations or CNVs, which are the gain or loss of segments of genomic DNA relative to a reference, have also b ...
... has led to the identification of interesting genetic markers for certain disorders. But these small changes are not the whole picture. Copy number variations or CNVs, which are the gain or loss of segments of genomic DNA relative to a reference, have also b ...
BLSSpeller: exhaustive comparative discovery of
... words are exhaustively enumerated for each gene family individually. A word is considered to be conserved in a gene family if its branch length score (BLS) exceeds threshold T. Multiple BLS thresholds Ti can be used in a single run. In the alignment-free mode, the BLS of a word is computed irrespect ...
... words are exhaustively enumerated for each gene family individually. A word is considered to be conserved in a gene family if its branch length score (BLS) exceeds threshold T. Multiple BLS thresholds Ti can be used in a single run. In the alignment-free mode, the BLS of a word is computed irrespect ...
Male-Biased Mutation Rate and Divergence in Autosomal, Z
... from ArkDB farm animal database at www.thearkdb.org or Schmid et al. [2000]), with the criterion of using only introns longer than 200 bp to reduce stochastic variation in estimates of divergence. This decision was motivated by the use of a novel bootstrapping method that bootstraps by both introns ...
... from ArkDB farm animal database at www.thearkdb.org or Schmid et al. [2000]), with the criterion of using only introns longer than 200 bp to reduce stochastic variation in estimates of divergence. This decision was motivated by the use of a novel bootstrapping method that bootstraps by both introns ...
MAMMALS THAT BREAK THE RULES:Genetics of Marsupials and
... offer informative variation on inactivation and even on the role of the X and Y in sex determination. The X chromosome is unique in the genome because of its extreme conservation and the inactivation of one X in females. Ohno showed three decades ago that among eutherian mammals, the X chromosome wa ...
... offer informative variation on inactivation and even on the role of the X and Y in sex determination. The X chromosome is unique in the genome because of its extreme conservation and the inactivation of one X in females. Ohno showed three decades ago that among eutherian mammals, the X chromosome wa ...
The Differential Killing of Genes by Inversions in Prokaryotic Genomes
... determines the described location of a gene. If the sense strand is located on the leading strand, it is assumed that “the gene lies on the leading strand.” In prokaryotic genomes, the leading and lagging roles of DNA strands are predetermined by location of the origin of replication and the terminu ...
... determines the described location of a gene. If the sense strand is located on the leading strand, it is assumed that “the gene lies on the leading strand.” In prokaryotic genomes, the leading and lagging roles of DNA strands are predetermined by location of the origin of replication and the terminu ...
Maternal and paternal genomes contribute equally to the
... form of imprinting in the Arabidopsis embryo. Genome-wide approaches similar to ours but looking much later after fertilization greatly expanded the list of genes with parent-of-origin-specific expression in the endosperm but did not identify such genes in embryos23,24. Thus, the imprinting-like phe ...
... form of imprinting in the Arabidopsis embryo. Genome-wide approaches similar to ours but looking much later after fertilization greatly expanded the list of genes with parent-of-origin-specific expression in the endosperm but did not identify such genes in embryos23,24. Thus, the imprinting-like phe ...
Fifteen years of genomewide scans for selection: trends, lessons
... over the last 15 years due to increased availability of genome-scale genetic data. Here, we report a representative survey of GWSS from 1999 to present and find that (i) between 1999 and 2009, 35 of 49 (71%) GWSS focused on human, while from 2010 to present, only 38 of 83 (46%) of GWSS focused on hu ...
... over the last 15 years due to increased availability of genome-scale genetic data. Here, we report a representative survey of GWSS from 1999 to present and find that (i) between 1999 and 2009, 35 of 49 (71%) GWSS focused on human, while from 2010 to present, only 38 of 83 (46%) of GWSS focused on hu ...
Lecture PPT - Carol Lee Lab
... among which the rapidly evolving KRAB-zinc finger genes are markedly over-represented. KRAB-zinc fingers have on average accumulated more amino acid differences between humans and chimpanzees than other genes, indicating that they may have contributed disproportionately to the phenotypic differences ...
... among which the rapidly evolving KRAB-zinc finger genes are markedly over-represented. KRAB-zinc fingers have on average accumulated more amino acid differences between humans and chimpanzees than other genes, indicating that they may have contributed disproportionately to the phenotypic differences ...
RNA PROCESSING AND RNPs
... • the potential for an increase in phenotypic diversity without increasing the overall number of genes. Is achieved by altering the pattern of exons that are spliced together, • different proteins can arise from the processed mRNA from a single gene. ...
... • the potential for an increase in phenotypic diversity without increasing the overall number of genes. Is achieved by altering the pattern of exons that are spliced together, • different proteins can arise from the processed mRNA from a single gene. ...
reproduction
... While the epigenetic regulation of this germline specification programme in specific genes has not yet been examined, evidence for specific epigenetic modifications of germline genes has surprisingly come from the study of a variety of adult tumours. Loriot et al. (2003) identified a number of germl ...
... While the epigenetic regulation of this germline specification programme in specific genes has not yet been examined, evidence for specific epigenetic modifications of germline genes has surprisingly come from the study of a variety of adult tumours. Loriot et al. (2003) identified a number of germl ...
Indigenous Peoples - Council for Responsible Genetics
... to ignore many other factors that influence an individual - even an individuals body. Genes, and difference in genes, may explain some of the differences between people, but other factors also contribute to differences between people. Many other factors, including environment, nutrition, and the fa ...
... to ignore many other factors that influence an individual - even an individuals body. Genes, and difference in genes, may explain some of the differences between people, but other factors also contribute to differences between people. Many other factors, including environment, nutrition, and the fa ...
Horizontal transfer generates genetic variation in an asexual
... in the chromosomal structure of JR2 between the core genome and LS regions: the LS regions are rich in highly similar but unidentical sequences, whereas the core is poor in such sequences. In the above example, the three types of highly similar sequences were found in the LS regions of JR2. To see w ...
... in the chromosomal structure of JR2 between the core genome and LS regions: the LS regions are rich in highly similar but unidentical sequences, whereas the core is poor in such sequences. In the above example, the three types of highly similar sequences were found in the LS regions of JR2. To see w ...
Lampetra fluviatilis Neurotrophin Homolog, Descendant of a
... Schartl, 1994). It has been proposed that extensive gene duplications have occurred at the root of vertebrate evolution (Holland et al., 1994) and that these duplications may be the result of total or partial genome doubling (Ohno, 1970; Lundin, 1979, 1993). Doubling of the total genome (tetraploidi ...
... Schartl, 1994). It has been proposed that extensive gene duplications have occurred at the root of vertebrate evolution (Holland et al., 1994) and that these duplications may be the result of total or partial genome doubling (Ohno, 1970; Lundin, 1979, 1993). Doubling of the total genome (tetraploidi ...
Genetics Notes.notebook
... ACT TGA TTG ACG ATG GTC How do you know which mRNA base will pair with each DNA base? ...
... ACT TGA TTG ACG ATG GTC How do you know which mRNA base will pair with each DNA base? ...
Foundations of Biology
... The cos site signals for packaging into l phage, thus the plasmid, including a large insert can be packaged into phage particles without having to waste space on l genes A cosmid combined with a cloned insert cannot exceed the 53 kb limit on how much can be packaged into the l phage head ©2000 Timot ...
... The cos site signals for packaging into l phage, thus the plasmid, including a large insert can be packaged into phage particles without having to waste space on l genes A cosmid combined with a cloned insert cannot exceed the 53 kb limit on how much can be packaged into the l phage head ©2000 Timot ...
Chpt9_Transposition.doc
... transposition, which is the movement of DNA from one location to another. Segments of DNA with this ability to move are called transposable elements. Transposable elements were formerly thought to be found only in a few species, but now they are recognized as components of the genomes of virtually a ...
... transposition, which is the movement of DNA from one location to another. Segments of DNA with this ability to move are called transposable elements. Transposable elements were formerly thought to be found only in a few species, but now they are recognized as components of the genomes of virtually a ...
How to determine whether a strain will undergo senescence. Background
... Occasional outcrossing can purge the genome of the accumulated defective genes, but in the absence of genetic recombination, deleterious mutations are expected ultimately to result in death of a serially propogated normal culture. Exceptions are known, however, where the potential for unlimited grow ...
... Occasional outcrossing can purge the genome of the accumulated defective genes, but in the absence of genetic recombination, deleterious mutations are expected ultimately to result in death of a serially propogated normal culture. Exceptions are known, however, where the potential for unlimited grow ...
PowerPoint-presentatie - the biopsychology research group
... European Caucasian parent-child trios with offspring meeting the DSM-IV combined-type criteria for ADHD. Families were collected in the Netherlands, Ireland, UK, Germany, Belgium, Switzerland, Spain and Israel. Using the intensity data from the SNP analysis carried out at Perlegen Sciences, copy num ...
... European Caucasian parent-child trios with offspring meeting the DSM-IV combined-type criteria for ADHD. Families were collected in the Netherlands, Ireland, UK, Germany, Belgium, Switzerland, Spain and Israel. Using the intensity data from the SNP analysis carried out at Perlegen Sciences, copy num ...
- Genetics
... In the accompanying article in this issue (Bergero et al. 2013), we mapped several genes to the S. latifolia PAR. The 25-cM genetic map length of the S. latifolia PAR suggests that it probably carries many genes that could potentially undergo SA mutations, and so this species is well suited for tes ...
... In the accompanying article in this issue (Bergero et al. 2013), we mapped several genes to the S. latifolia PAR. The 25-cM genetic map length of the S. latifolia PAR suggests that it probably carries many genes that could potentially undergo SA mutations, and so this species is well suited for tes ...
π, γ
... chromosomes yields of Π t following equation DCJ-indel distcomponent ance: chromosomes of Πforand that t he s of Π − Π form cycles • The solution space is known for DCJ-sorting (Braga and ew adjacencies form aindperfect mat ching on V (Π ) − V (Π ); we may Stoye, 2010). dD CJ (Π , Γ ) = min { dD CJ ...
... chromosomes yields of Π t following equation DCJ-indel distcomponent ance: chromosomes of Πforand that t he s of Π − Π form cycles • The solution space is known for DCJ-sorting (Braga and ew adjacencies form aindperfect mat ching on V (Π ) − V (Π ); we may Stoye, 2010). dD CJ (Π , Γ ) = min { dD CJ ...
Analysis of TALE superclass homeobox genes
... specificity of the homeodomain (for example, 31), and in many typical homeodomains polar residues such as glutamine, lysine, cysteine, histidine or serine are found. The fact that in TALE homeodomains a small, non-polar residue is at that position suggests that the DNA–protein interactions of TALE g ...
... specificity of the homeodomain (for example, 31), and in many typical homeodomains polar residues such as glutamine, lysine, cysteine, histidine or serine are found. The fact that in TALE homeodomains a small, non-polar residue is at that position suggests that the DNA–protein interactions of TALE g ...
A comprehensive computational model of facilitated diffusion in
... Associate Editor: John Quackenbush ...
... Associate Editor: John Quackenbush ...
Epigenetics in mood disorders
... associated with the inhibition of transcription factor binding to cis-acting regulatory sequences and the recruitment of repressor complexes, including methyl CpG binding proteins (MBDs), resulting in transcriptional repression [9, 10]. Histone modifications confer what has been called a ‘histone co ...
... associated with the inhibition of transcription factor binding to cis-acting regulatory sequences and the recruitment of repressor complexes, including methyl CpG binding proteins (MBDs), resulting in transcriptional repression [9, 10]. Histone modifications confer what has been called a ‘histone co ...
Dosage Compensation Mechanisms: Evolution
... et al., 2002). (See Noncoding RNAs: A Regulatory Role?; Nonprotein-coding Genes; X-chromosome Inactivation; X-chromosome Inactivation and Disease.) ...
... et al., 2002). (See Noncoding RNAs: A Regulatory Role?; Nonprotein-coding Genes; X-chromosome Inactivation; X-chromosome Inactivation and Disease.) ...
Human genome
The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. 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. While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%) and bonobos. Humans share 50% of their DNA with bananas.The Human Genome Project produced the first complete sequences of individual human genomes, with the first draft sequence and initial analysis being published on February 12, 2001. The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data are used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. 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. Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance.There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. 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 molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been elucidated.