Identity-by-descent filtering of exome sequence data for disease
... number of variants that are identified in individual exomes. Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens. Results: Our algorithm uses a non-homogeneous ...
... number of variants that are identified in individual exomes. Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens. Results: Our algorithm uses a non-homogeneous ...
Genomic dissection of plant development and its
... gain basic insights into the relationships between the different phases of plant development, HEI, and their influence on TGW. We observed very high correlations (0.88–0.93) between SHO, HEA, and MAT (Table 3). This indicates that early shooting lines also tend to be early for other stages. Another ...
... gain basic insights into the relationships between the different phases of plant development, HEI, and their influence on TGW. We observed very high correlations (0.88–0.93) between SHO, HEA, and MAT (Table 3). This indicates that early shooting lines also tend to be early for other stages. Another ...
1 Transmission Disequilibrium Methods for Family
... defective gene), positional cloning (using genetic markers and genome-wide screens), or evaluation of candidate genes (genes with known function as likely candidates related to the disease). Association studies - often used to evaluate candidate genes - typically are based on the case-control study ...
... defective gene), positional cloning (using genetic markers and genome-wide screens), or evaluation of candidate genes (genes with known function as likely candidates related to the disease). Association studies - often used to evaluate candidate genes - typically are based on the case-control study ...
Exome sequencing as a tool for Mendelian disease gene discovery
... alleles in the same gene shared among affected individuals (FIG. 2a). In these cases, novelty is assessed by filtering the variants against a set of polymorphisms that are available in public databases (for example, dbSNP and 1000 Genomes Project) and/or those found in a set of unaffected individual ...
... alleles in the same gene shared among affected individuals (FIG. 2a). In these cases, novelty is assessed by filtering the variants against a set of polymorphisms that are available in public databases (for example, dbSNP and 1000 Genomes Project) and/or those found in a set of unaffected individual ...
The obstruction of adaptation in diploids by recessive deleterious
... constant factors. This is intentional. Scaling properties hold generally across different models studied, whereas the constant factors typically do not. For example, the fixation probability of a beneficial mutation is frequently quoted as 2s; however, the constant 2 depends on the details of the st ...
... constant factors. This is intentional. Scaling properties hold generally across different models studied, whereas the constant factors typically do not. For example, the fixation probability of a beneficial mutation is frequently quoted as 2s; however, the constant 2 depends on the details of the st ...
... identified in the initial analyses, and a replication sample of 157 alcoholic families ascertained under identical criteria has been genotyped. Two hierarchical definitions of alcoholism were employed in the linkage analyses: (1) Individuals who met both Feighner and DSM-111-R criteria for alcohol d ...
HLA matching, compatibility testing and donor selection
... Medium resolution typing implies that a DNA based test has been used, but it not discriminatory enough to tell us the exact allele i.e. it can define specific allele groups (often as a ‘string’ of possible alleles). For example an HLA-A*0201 allele may be typed as an A*0201/0205/0209/0240 with the t ...
... Medium resolution typing implies that a DNA based test has been used, but it not discriminatory enough to tell us the exact allele i.e. it can define specific allele groups (often as a ‘string’ of possible alleles). For example an HLA-A*0201 allele may be typed as an A*0201/0205/0209/0240 with the t ...
Genome-Wide Association Mapping Reveals Novel QTL for
... al., 2013), high-density HapMaps have been constructed. These HapMaps greatly facilitate GWAS and have the potential to rapidly resolve complex traits to gene-level resolution (Xu and Bai, 2015). Genome-wide association study has been widely used in wheat (Breseghello and Sorrells, 2006; Juliana et ...
... al., 2013), high-density HapMaps have been constructed. These HapMaps greatly facilitate GWAS and have the potential to rapidly resolve complex traits to gene-level resolution (Xu and Bai, 2015). Genome-wide association study has been widely used in wheat (Breseghello and Sorrells, 2006; Juliana et ...
The landscape of Neandertal ancestry in present
... We have shown that interbreeding of Neandertals and modern humans introduced alleles onto the modern human genetic background that were not tolerated and were swept away, in part because they contributed to male hybrid sterility. The resulting reduction in Neandertal ancestry was quantitatively larg ...
... We have shown that interbreeding of Neandertals and modern humans introduced alleles onto the modern human genetic background that were not tolerated and were swept away, in part because they contributed to male hybrid sterility. The resulting reduction in Neandertal ancestry was quantitatively larg ...
Procedure - Peevyhouse
... 2. Will the recessive allele ever be completely eliminated in the procedures using selection and heterozygote advantage? Why or why not? ...
... 2. Will the recessive allele ever be completely eliminated in the procedures using selection and heterozygote advantage? Why or why not? ...
Genetics
... 1. EST-SSR discovery and validation in cowpea and genetic diversity 2. EST-SNP discovery and validation in cowpea and genetic diversity 3. SNP discovery from genotyping by sequencing in cowpea 4. Genetic diversity analysis for world-wide cowpea germplasm 5. Association analysis of low phosphorus eff ...
... 1. EST-SSR discovery and validation in cowpea and genetic diversity 2. EST-SNP discovery and validation in cowpea and genetic diversity 3. SNP discovery from genotyping by sequencing in cowpea 4. Genetic diversity analysis for world-wide cowpea germplasm 5. Association analysis of low phosphorus eff ...
Potato Genome Sequencing Consortium: Final
... then doubling it using tissue culture techniques. Phureja types are virtually identical to conventional potatoes in their genome sequence and the use of DM made the task of sequencing the genome much simpler. The genome sequencing process itself is quite simple nowadays, thanks to the recent develop ...
... then doubling it using tissue culture techniques. Phureja types are virtually identical to conventional potatoes in their genome sequence and the use of DM made the task of sequencing the genome much simpler. The genome sequencing process itself is quite simple nowadays, thanks to the recent develop ...
draft - IC
... and it may be of value as a speedily computable, rst approximation to distances or phylogenies based on more realistic rearrangement models. The rest of this paper is structured as follows. In Section 2 we present the basic de nitions, including SCJ. Section 3 deals with the distance problem and co ...
... and it may be of value as a speedily computable, rst approximation to distances or phylogenies based on more realistic rearrangement models. The rest of this paper is structured as follows. In Section 2 we present the basic de nitions, including SCJ. Section 3 deals with the distance problem and co ...
Educational Items Section Chromosomal Disorders - Karyotype Indications in Oncology and Haematology
... - trisomy 21: 1,5/1000; other unbalanced autosomal disorders: 0,5/ 1000; - balanced chromosomal disorders with a normal phenotype 2/1000 - among 1000 known pregnancies 150 will abort spontaneously: among them 100 have an abnormal chromosomal complement: 20 Turner syndrome, 20 trisomies 16 and 20 tri ...
... - trisomy 21: 1,5/1000; other unbalanced autosomal disorders: 0,5/ 1000; - balanced chromosomal disorders with a normal phenotype 2/1000 - among 1000 known pregnancies 150 will abort spontaneously: among them 100 have an abnormal chromosomal complement: 20 Turner syndrome, 20 trisomies 16 and 20 tri ...
Exceptionally high levels of recombination
... vary across species and within genomes (Nachman 2002; JensenSeaman et al. 2004). Linkage mapping in the honey bee (Apis mellifera) showed that this species has an unusually high meiotic recombination rate, on the order of 10-fold higher than that of Drosophila and other genetic model systems (Supple ...
... vary across species and within genomes (Nachman 2002; JensenSeaman et al. 2004). Linkage mapping in the honey bee (Apis mellifera) showed that this species has an unusually high meiotic recombination rate, on the order of 10-fold higher than that of Drosophila and other genetic model systems (Supple ...
Imputation-Based Fine-Mapping Suggests that Most QTL in an
... categorical covariates, with 2 different levels for sex and 7 different levels for generation, ...
... categorical covariates, with 2 different levels for sex and 7 different levels for generation, ...
Genetic testing for asthma REVIEW
... ABSTRACT: Asthma is a genetically complex disease caused by multiple genetic and environmental factors. An increasing number of asthma susceptibility genes are currently being identified. The present study addresses the question as to whether this genetic information can be used to predict asthma, p ...
... ABSTRACT: Asthma is a genetically complex disease caused by multiple genetic and environmental factors. An increasing number of asthma susceptibility genes are currently being identified. The present study addresses the question as to whether this genetic information can be used to predict asthma, p ...
selection for recombination in small populations
... origin and persistence of sex and recombination (Morgan 1913; Fisher 1930; Muller 1932; Haldane 1990), and it relies on the stochastic nature of evolution in small populations. In infinitely large populations, every genotype already exists; thus, as long as there is no epistasis and no initial linka ...
... origin and persistence of sex and recombination (Morgan 1913; Fisher 1930; Muller 1932; Haldane 1990), and it relies on the stochastic nature of evolution in small populations. In infinitely large populations, every genotype already exists; thus, as long as there is no epistasis and no initial linka ...
PDF - Blood Journal
... ample, rs9923231 that is located upstream of VKORC1 (⫺1639 G⬎A) and associated with low expression, and the intronic rs2359612 (2255 C⬎T).12,13 In different populations, CYP2C9 explains on average 12% (range, 4%-20%) of the variability in dose requirements, while VKORC1 explains 27% (range, 15%-34%) ...
... ample, rs9923231 that is located upstream of VKORC1 (⫺1639 G⬎A) and associated with low expression, and the intronic rs2359612 (2255 C⬎T).12,13 In different populations, CYP2C9 explains on average 12% (range, 4%-20%) of the variability in dose requirements, while VKORC1 explains 27% (range, 15%-34%) ...
Mapping Mendelian Factors Underlying Quantitative ... Using RFLP Linkage Maps Eric
... methodology for mapping QTLs in experimental organisms. Although the basic idea has been clear since SAX(1 923),the systematic approach made possible by complete RFLP linkage maps raises a number of questions. With complete coverageof the genomeassured by the map, is it possible to design a cross so ...
... methodology for mapping QTLs in experimental organisms. Although the basic idea has been clear since SAX(1 923),the systematic approach made possible by complete RFLP linkage maps raises a number of questions. With complete coverageof the genomeassured by the map, is it possible to design a cross so ...
Ordered subset analysis in genetic linkage mapping of complex traits
... and to identify BRCA1. Had age of onset been ignored, linkage to chromosome 17 might have been excluded as the overall lod score was substantially negative due to the heterogeneous mixture of families in the sample. We expand upon the idea of using a trait-related covariate to examine evidence for l ...
... and to identify BRCA1. Had age of onset been ignored, linkage to chromosome 17 might have been excluded as the overall lod score was substantially negative due to the heterogeneous mixture of families in the sample. We expand upon the idea of using a trait-related covariate to examine evidence for l ...
selection for the heterozygote
... - equilibrium can occur if AA and aa are each fit in a given niche, within the population. The equilibrium will depend on the relative frequencies of the niches and the selection differentials... - can you think of an example?? Papilio butterflies... females mimic different models and an equilibrium ...
... - equilibrium can occur if AA and aa are each fit in a given niche, within the population. The equilibrium will depend on the relative frequencies of the niches and the selection differentials... - can you think of an example?? Papilio butterflies... females mimic different models and an equilibrium ...
CHROMOTHRIPSIS FROM DNA DAMAGE IN MICRONUCLEI The
... We recently proposed that the physical isolation of chromosomes in aberrant nuclear structures called micronuclei might explain the localization of DNA lesions in chromothripsis11. Micronuclei are a common outcome of many cell division defects, including mitotic errors that missegregate intact chrom ...
... We recently proposed that the physical isolation of chromosomes in aberrant nuclear structures called micronuclei might explain the localization of DNA lesions in chromothripsis11. Micronuclei are a common outcome of many cell division defects, including mitotic errors that missegregate intact chrom ...
Development and implementation of genomic predictions in beef cattle
... high accuracy of genomic prediction achieved in many dairy populations, coupled with it being a generally higher profit margin business, justifies investment by producers in genotyping to aid in selection of candidate female replacements (Weigel et al., 2012). The fiscal status of the beef sector al ...
... high accuracy of genomic prediction achieved in many dairy populations, coupled with it being a generally higher profit margin business, justifies investment by producers in genotyping to aid in selection of candidate female replacements (Weigel et al., 2012). The fiscal status of the beef sector al ...
Tag SNP
A tag SNP is a representative single nucleotide polymorphism (SNP) in a region of the genome with high linkage disequilibrium that represents a group of SNPs called a haplotype. It is possible to identify genetic variation and association to phenotypes without genotyping every SNP in a chromosomal region. This reduces the expense and time of mapping genome areas associated with disease, since it eliminates the need to study every individual SNP. Tag SNPs are useful in whole-genome SNP association studies in which hundreds of thousands of SNPs across the entire genome are genotyped.