Detection of Mosaicism by Augmented Exome
... The contribution of mosaicism to the development of Mendelian disease has been increasingly recognized as techniques sensitive to mosaic detection have been adopted as primary testing strategies. However, routine detection of mosaicism in conventional genome and exome sequencing is hampered by multi ...
... The contribution of mosaicism to the development of Mendelian disease has been increasingly recognized as techniques sensitive to mosaic detection have been adopted as primary testing strategies. However, routine detection of mosaicism in conventional genome and exome sequencing is hampered by multi ...
patterns of linkage disequilibrium in the human genome
... of LD, its numerical value is of little use for measuring the strength of and comparing levels of LD. This is due to the dependence of D on allele frequencies. As a result, several alternative measures based on D have been devised (reviewed in Devlin and Risch23). Comparing different reports on the ...
... of LD, its numerical value is of little use for measuring the strength of and comparing levels of LD. This is due to the dependence of D on allele frequencies. As a result, several alternative measures based on D have been devised (reviewed in Devlin and Risch23). Comparing different reports on the ...
supplementary materials
... levels of divergent selection (s) acting on loci within the inversion under conditions of relatively ...
... levels of divergent selection (s) acting on loci within the inversion under conditions of relatively ...
University of Bucharest, Faculty of Biology, Molecular Biology Center
... Our results indicate that all tested cattle are normal, displaying normal genotypes. ...
... Our results indicate that all tested cattle are normal, displaying normal genotypes. ...
(S) tet Resistance Determinant Element Containing the Tetracycline
... the latter explanation, as the 4.8-kb hybridizing HindIII fragment with the int/xis probe is the same size as one of the fragments when tet(S) is used as the probe, indicating that the tet(S) gene and one of the int/xis regions are linked. When pAM120 is used to probe the blots, HincII digestion sho ...
... the latter explanation, as the 4.8-kb hybridizing HindIII fragment with the int/xis probe is the same size as one of the fragments when tet(S) is used as the probe, indicating that the tet(S) gene and one of the int/xis regions are linked. When pAM120 is used to probe the blots, HincII digestion sho ...
Supplemental File: Detailed Clinical Description, Sequencing
... subsequently performed in effort to gain improve coverage depth on the original two children, as well as to screen the exome sequence in the more severely affected oldest girl (individual II-1) and both healthy parents (individuals I-1 and I-2), on all five members of the immediate nuclear family in ...
... subsequently performed in effort to gain improve coverage depth on the original two children, as well as to screen the exome sequence in the more severely affected oldest girl (individual II-1) and both healthy parents (individuals I-1 and I-2), on all five members of the immediate nuclear family in ...
... their specific antibodies. This high affinity ensures that, once formed, the complex is not disturbed by changes in pH, the presence of chaotropes, or manipulations such as multiple washings when the complex is immobilized. (b) Avidin or streptavidin binding to biotin is specific enough to ensure th ...
Genetic Variation of Multilocus Traits
... Most traits of interest, however, are expected to be influenced by numerous loci A number of factors must be considered for traits that are influenced by more than one locus including ...
... Most traits of interest, however, are expected to be influenced by numerous loci A number of factors must be considered for traits that are influenced by more than one locus including ...
patterns of linkage disequilibrium in the human genome
... Although the measure D captures the intuitive concept of LD, its numerical value is of little use for measuring the strength of and comparing levels of LD. This is due to the dependence of D on allele frequencies. As a result, several alternative measures based on D have been devised (reviewed in De ...
... Although the measure D captures the intuitive concept of LD, its numerical value is of little use for measuring the strength of and comparing levels of LD. This is due to the dependence of D on allele frequencies. As a result, several alternative measures based on D have been devised (reviewed in De ...
Full-Text PDF
... a great research challenge in this field is focused on the need to develop rapid, reliable, specific, and sensitive methods to detect these bacteria at low cost. Moreover, the growing interest in biochip development for large scale screening analysis implies improved miniaturization, reduction of an ...
... a great research challenge in this field is focused on the need to develop rapid, reliable, specific, and sensitive methods to detect these bacteria at low cost. Moreover, the growing interest in biochip development for large scale screening analysis implies improved miniaturization, reduction of an ...
CF Overview of CF Genotypin and NSQAP services
... Sequenom® assays other than HerediT™ CF (MALDI-TOF Mass Spectrometry) ViennaLab Diagnostics GmbH CF StripAssay® ...
... Sequenom® assays other than HerediT™ CF (MALDI-TOF Mass Spectrometry) ViennaLab Diagnostics GmbH CF StripAssay® ...
Polymerase Chain Reaction (PCR) - Department of Environmental
... In general we do not mix the reagents for each individual reaction. Rather, a master mix is made in which enough of each reagent to satisfy all reactions is combined into one tube, and then dispensed among the individual reaction tubes. Template DNA is then added to each tube. This limits pipetting ...
... In general we do not mix the reagents for each individual reaction. Rather, a master mix is made in which enough of each reagent to satisfy all reactions is combined into one tube, and then dispensed among the individual reaction tubes. Template DNA is then added to each tube. This limits pipetting ...
The first true obligately syntrophic propionate
... produced. Acetate was detected in only small amounts, indicating the presence of acetoclastic methanogens. Propionate-oxidizing bacteria were further purified by repeated rounds of pasteurization for 30 min at 85 uC and subculturing in the presence of Methanospirillum hungatei JF-1T. The highest dil ...
... produced. Acetate was detected in only small amounts, indicating the presence of acetoclastic methanogens. Propionate-oxidizing bacteria were further purified by repeated rounds of pasteurization for 30 min at 85 uC and subculturing in the presence of Methanospirillum hungatei JF-1T. The highest dil ...
SOMAmer® anti-Carbonic anhydrase 3 Reagent
... SOMAmer reagents have been qualified for target affinity capture in conjunction with numerous downstream applications. Specific protocols should be determined for the intended use. General application notes are available on our website (http://www.somalogic.com/resources/app-notes/). Specificity No ...
... SOMAmer reagents have been qualified for target affinity capture in conjunction with numerous downstream applications. Specific protocols should be determined for the intended use. General application notes are available on our website (http://www.somalogic.com/resources/app-notes/). Specificity No ...
Comparisons of Maize pericarp color1 Alleles
... P1-wr (Zhang et al., 2000); partial sequence analysis of these clones indicated that they were derived from p2 (Zhang et al., 2003). The second class hybridizes with both probes 15 and 8B and has the 80-bp sequence in the 59 UTR sequence; thus, it appears to contain the p1 gene. Two overlapping p1-c ...
... P1-wr (Zhang et al., 2000); partial sequence analysis of these clones indicated that they were derived from p2 (Zhang et al., 2003). The second class hybridizes with both probes 15 and 8B and has the 80-bp sequence in the 59 UTR sequence; thus, it appears to contain the p1 gene. Two overlapping p1-c ...
Precise insertion and guided editing of higher plant
... regions were amplified via PCR from multiple GE0001 events as well as from wild type rice. These fragments were subcloned, sequenced via Sanger sequencing and compared to the wild type sequences. No off-target mutations were detected at these genomic loci. The FnCpf1 targeted integration experiment ...
... regions were amplified via PCR from multiple GE0001 events as well as from wild type rice. These fragments were subcloned, sequenced via Sanger sequencing and compared to the wild type sequences. No off-target mutations were detected at these genomic loci. The FnCpf1 targeted integration experiment ...
What is a genome?
... The steps of the sequencing of the human genome 1953. Watson and Crick propose the double helix model for DNA 1977. Sanger proposes the sequencing method with terminators 1986. Dulbecco auspicates in Science sequencing of the human genome 1988. Watson becomes director of the project at the NIH 1991 ...
... The steps of the sequencing of the human genome 1953. Watson and Crick propose the double helix model for DNA 1977. Sanger proposes the sequencing method with terminators 1986. Dulbecco auspicates in Science sequencing of the human genome 1988. Watson becomes director of the project at the NIH 1991 ...
Title Heterochromatin Blocks Constituting the Entire
... the highest intensity signals for further study. 3.3. Identification of novel tandem repeat sequences We sequenced the terminal regions (600 –800 nucleotides from both ends) of the eight selected clones using universal sequencing primers (M13 and reverse primers). All sequence reads were found to co ...
... the highest intensity signals for further study. 3.3. Identification of novel tandem repeat sequences We sequenced the terminal regions (600 –800 nucleotides from both ends) of the eight selected clones using universal sequencing primers (M13 and reverse primers). All sequence reads were found to co ...
Extracting Haplotypes from Diploid Organisms
... diploid organisms includes two components. The first is to obtain DNA sequence information from the target loci. At present, this process is most commonly achieved by first using gene-specific PCR primers to amplify both alleles in diploid individuals. The PCR products are then sequenced directly us ...
... diploid organisms includes two components. The first is to obtain DNA sequence information from the target loci. At present, this process is most commonly achieved by first using gene-specific PCR primers to amplify both alleles in diploid individuals. The PCR products are then sequenced directly us ...
Analysis of the first polar body: preconception genetic
... (PCR). We have applied this approach to a patient at risk for alpha-1-antitrypsin (a-l-AT) deficiency and have transferred only diose embryos derived from oocytes possessing the normal PIM allele. Theoretically, this technique can be applied to any genetic disorder amenable to genetic analysis using ...
... (PCR). We have applied this approach to a patient at risk for alpha-1-antitrypsin (a-l-AT) deficiency and have transferred only diose embryos derived from oocytes possessing the normal PIM allele. Theoretically, this technique can be applied to any genetic disorder amenable to genetic analysis using ...
illuminaHumanv3.db October 28, 2014
... indicates the chromosome. Due to inconsistencies that may exist at the time the object was built, these vectors may contain more than one chromosome and/or location. If the chromosomal location is unknown, the vector will contain an NA. Chromosomal locations on both the sense and antisense strands a ...
... indicates the chromosome. Due to inconsistencies that may exist at the time the object was built, these vectors may contain more than one chromosome and/or location. If the chromosomal location is unknown, the vector will contain an NA. Chromosomal locations on both the sense and antisense strands a ...
Accounting for Non-Genetic Factors Improves the Power of eQTL
... other physiological and biological factors. In principle, when collecting gene expression data sets for eQTL, non-genetic factors should be controlled to be constant across all samples, but in practice this can only be achieved to a limited degree. Indeed, it is reasonable to expect that a substanti ...
... other physiological and biological factors. In principle, when collecting gene expression data sets for eQTL, non-genetic factors should be controlled to be constant across all samples, but in practice this can only be achieved to a limited degree. Indeed, it is reasonable to expect that a substanti ...
Physical Mapping of a 670-kb Region of Chromosomes XVI and XVII
... Southern blot analysis. No rearrangements were observed suggesting the YAC clones are propagated faithfully during mitosis. This observation was further supported by restriction analysis of h49 and jl8 loci after several rounds of propagation. The hybridization profiles obtained with these probes we ...
... Southern blot analysis. No rearrangements were observed suggesting the YAC clones are propagated faithfully during mitosis. This observation was further supported by restriction analysis of h49 and jl8 loci after several rounds of propagation. The hybridization profiles obtained with these probes we ...
thalassaemia mutations in Sardinians
... analysis of amniocyte or chorionic villus DNA with an oligonucleotide probe able to detect the 13039 mutation.3 The remaining cases, in whom the molecular defect has not yet been characterised, are monitored by fetal blood analysis.5 In order to extend prenatal diagnosis by DNA analysis to carriers ...
... analysis of amniocyte or chorionic villus DNA with an oligonucleotide probe able to detect the 13039 mutation.3 The remaining cases, in whom the molecular defect has not yet been characterised, are monitored by fetal blood analysis.5 In order to extend prenatal diagnosis by DNA analysis to carriers ...
Molecular Inversion Probe
Molecular Inversion Probe (MIP) belongs to the class of Capture by Circularization molecular techniques for performing genomic partitioning, a process through which one captures and enriches specific regions of the genome. Probes used in this technique are single stranded DNA molecules and, similar to other genomic partitioning techniques, contain sequences that are complementary to the target in the genome; these probes hybridize to and capture the genomic target. MIP stands unique from other genomic partitioning strategies in that MIP probes share the common design of two genomic target complementary segments separated by a linker region. With this design, when the probe hybridizes to the target, it undergoes an inversion in configuration (as suggested by the name of the technique) and circularizes. Specifically, the two target complementary regions at the 5’ and 3’ ends of the probe become adjacent to one another while the internal linker region forms a free hanging loop. The technology has been used extensively in the HapMap project for large-scale SNP genotyping as well as for studying gene copy alterationsand characteristics of specific genomic loci to identify biomarkers for different diseases such as cancer. Key strengths of the MIP technology include its high specificity to the target and its scalability for high-throughput, multiplexed analyses where tens of thousands of genomic loci are assayed simultaneously.