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Correction of copy number induced false positives in
Correction of copy number induced false positives in

... Overall, LDO removes the copy number effect beyond the YAP1 amplicon in sf268 and in mkn45 cell lines, as shown in Fig. 3. The number of guides with log2(CNA) larger than 2 and LogFC below -0.5 is decreased from 84 to 25 guides in mkn45 and 274 to 50 guides in sf268. Library design and guide quality ...
View PDF
View PDF

... marsupials and monotremes, implying that it was added to the placental X between 100 and 180 MYA. The human Y chromosome, too, is composed of a corresponding ancient region shared with marsupials, and an added region, on the Y only in placental mammals (Waters et al., 2001). Thus the human X is tech ...
Genome analysis of Desulfotomaculum gibsoniae strain
Genome analysis of Desulfotomaculum gibsoniae strain

... Keywords: spore-forming anaerobes, sulfate reduction, autotrophic, anaerobic degradation of aromatic compounds, complete oxidizer, Peptococcaceae, Clostridiales Desulfotomaculum gibsoniae is a mesophilic member of the polyphyletic spore-forming genus Desulfotomaculum within the family Peptococcaceae ...
Why Mitochondrial Genes are Most Often Found in Nuclei
Why Mitochondrial Genes are Most Often Found in Nuclei

... mutant mitochondria increases until there are no functional mitochondria in that cell line. Thus, the rate u⬘2 for Mn → mn is expected to be somewhat different from u2 for MN → mN. Nevertheless, the value of u⬘2 is not crucial for the results of the model. The rate of gene inactivation in contempora ...
Regulation of phenylalanine biosynthesis in Escherichia coli K
Regulation of phenylalanine biosynthesis in Escherichia coli K

... P-galactosidase activity did not change, but this may represent an instability of the enzyme itself under the conditions of phenylalanine starvation in the chemostat; when the same strain was grown at a slower rate (D, 0.05 h-1) in the chemostat, the prephenate dehydratase activity remained elevated ...
Missense mutations in the PAX6 gene in aniridia.
Missense mutations in the PAX6 gene in aniridia.

... vertebrates since paired originally was identified as a segmentation gene in Drosophila melanogaster.1-2 The encoded proteins are transcriptional regulators with DNA binding through a conserved domain consisting of 128 amino acids (paired box).3 Some Pax genes share another conserved domain, homeobo ...
Missense mutations in the PAX6 gene in aniridia.
Missense mutations in the PAX6 gene in aniridia.

... vertebrates since paired originally was identified as a segmentation gene in Drosophila melanogaster.1-2 The encoded proteins are transcriptional regulators with DNA binding through a conserved domain consisting of 128 amino acids (paired box).3 Some Pax genes share another conserved domain, homeobo ...
Sample COLARIS AP LMNs
Sample COLARIS AP LMNs

... polyps detected in this patient (##) thus far is suggestive of mutations in the APC or MYH genes. Mutations in the APC gene are responsible for Familial Adenomatous Polyposis (FAP), which is characterized by a proliferation of adenomatous polyps throughout the colon and rectum. Carriers of APC mutat ...
Navigating the NCBI Intructions
Navigating the NCBI Intructions

... 4. Type “BRCA1” into the Search box. Make sure there is no space between BRCA and 1. Click Search. BRCA1 is a tumor suppressor gene that normally prevents cancer. Mutations in this gene are associated with increased risk of hereditary breast cancer and ovarian cancer when normal function is lost. Th ...
Bio2250 - Principles of Genetics
Bio2250 - Principles of Genetics

A conserved enhancer of the human and murine Hoxa
A conserved enhancer of the human and murine Hoxa

... from the endogenous Hoxa-7 gene during the period of development when Hoxa-7 expression is established (Püschel et al., 1990). Furthermore, at least three distinct elements responsible for different levels of control, being active at different stages of development, were identified (Püschel et al., ...
Familial Mediterranean Fever (FMF)
Familial Mediterranean Fever (FMF)

... • Each child has a 25% (1 in 4) chance of receiving 2 mutated copies of the gene (one from each parent) and getting the disease itself. • Each child has a 50% (1 in 2) chance of receiving a mutated copy of the gene from one parent and a normal copy from the other. These children will be asymptomatic ...
Microarray Data Analysis Statistical 吳漢銘 助理教授 陽明大學 臨床醫學研究所
Microarray Data Analysis Statistical 吳漢銘 助理教授 陽明大學 臨床醫學研究所

... Normalization corrects for overall chip brightness and other factors that may influence the numerical value of expression intensity, enabling the user to more confidently compare gene expression estimates between samples. ...
Specific function of a plastid sigma factor for ndhF
Specific function of a plastid sigma factor for ndhF

... SIG5 and SIG6 mRNAs. For SIG2 mRNA, the hybridization temperature was lowered to 48 C. Amplification products were separated by electrophoresis on agarose (1.2%) gels. For semi-quantitative amplification of ndhF and psbN mRNAs only 1 mg of DNase I-treated total RNA was used. After cDNA synthesis us ...
The Complete Mitochondrial DNA (mtDNA) of the Donkey and
The Complete Mitochondrial DNA (mtDNA) of the Donkey and

Requirements for Driving Antipathogen Effector Genes into
Requirements for Driving Antipathogen Effector Genes into

CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE
CHAPTER 15 THE CHROMOSOMAL BASIS OF INHERITANCE

... additive: 9% (b-cn) + 9.5% (cn-vg) > 17% (b-vg). • This results from multiple crossing over events. • A second crossing over “cancels out” the first and reduced the observed number of recombinant offspring. • Genes father apart (for example, b-vg) are more likely to experience multiple crossing over ...
Proportionality between variances in gene expression induced by
Proportionality between variances in gene expression induced by

... systems, such relationship would not be expected. However, as a biological system is a result of evolution, existence of some relationship between the genetic and epigenetic robustness may be expected. The relationship between evolution and robustness has been long debated since the pioneering studi ...
Supplementary Material (doc 236K)
Supplementary Material (doc 236K)

... Supplemental Text. Linking to PheGenI Records. To link to PheGenI, the base URL is http://www.ncbi.nlm.nih.gov/gap/PheGenI and is case sensitive. A link to a particular search requires a query string to be appended to the URL and this begins with a question mark (?) followed by name=value pairs use ...
Caprine theriogenology
Caprine theriogenology

... hydrometra and for all intents and purposes it is unique to goats. For an unknown reason a doe will suddenly stop having estrous cycles and begin to accumulate fluid in her uterus. Because these does are not having estrous cycles, they are also said to be ‘pseudopregnant’. The clear fluid remains in ...
Repeat mediated gene duplication in the Drosophila
Repeat mediated gene duplication in the Drosophila

... 500 bp, 1 kb, 2 kb, and 5 kb flanking the 5′ and 3′ end of both copies of each duplicated region were extracted from the genome assembly in two ways: allowing the flanking sequences to overlap and not allowing overlap of the flanking sequences (see Supplementary methods). These flanking sequences were u ...
LECTURE 13: EPIGENETICS – IMPRINTING Reading: Ch. 18, p
LECTURE 13: EPIGENETICS – IMPRINTING Reading: Ch. 18, p

... have small hands and feet, underdeveloped gonads and genitalia, short stature, mental retardation, and obesity. Children with Angelman syndrome have red cheeks, large jaws, large mouth and tongue, mental and motor retardation, and a happy disposition. Both syndromes are associated with deletions in ...
Forward to the special issue on Hox/Tale transcription factors in
Forward to the special issue on Hox/Tale transcription factors in

... determine Hox gene regulation. The involvement of noncoding RNAs in regulating the clusters in vitro and in vivo are also discussed, and these studies are put into the context of more general transcriptional regulatory mechanisms. To date, a myriad of studies have highlighted various domains and mot ...
The DNA sequence and biology of human chromosome 19
The DNA sequence and biology of human chromosome 19

... Figure S1: Chromosome 11 recombination rate versus sequence-based physical distance. Markers from the deCODE genetic map were aligned to the chromosome and the average recombination rate was calculated for each 1 Mb window along its length. Female, male, and sex-averaged recombination rates are indi ...
Supplementary Material for Autozygome Sequencing Expands the
Supplementary Material for Autozygome Sequencing Expands the

... conservation (to detect possible reference genome sequence errors), and the transcriptomic context to detect the presence of alternative splicing and its interaction ...
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