Search 250 million research papers

Genetic analysis

Maarten Koornneef, P. Stam · WORLD SCIENTIFIC eBooks · 1992

Cited by 43

Genetic analysis.

Birgit S. Budde (37520), Priska Binner (37521), Stephan Waldmüller (37522) et al. · Figshare · 2015

<p>A, Linkage analysis. Two-point LOD scores for all chromosomes under the assumption of a reduced penetrance of 90% are shown. In the line below the diagram each red slash indicates the position of an analyzed marker on the corresponding chromosome. B, Genetic map of the candidate region 14cen-14q12. A part of the deCODE map is shown in the upper part. The critical interval is delimited by 14ptel and <i>D14S264</i>. The genomic organization of <i>MYH7</i> is delineated in the lower part. Exons are indicated by filled boxes and introns by horizontal lines. The translational start codon is located in exon 3. The positions of the intragenic markers <i>MYO</i> I in intron 1and <i>MYOII</i> in intron 24 are shown. The mutation was identified in exon 10. C, Mutation analysis. Chromatograms of the index patient III:4 and her unaffected son IV:2 are shown. The mutation site is marked by an arrow. Parts of the nucleotide sequence (from c.835 to c.849) and protein sequence (from 279 to 283) are given below.</p>

Cited by 0Open access

Genetic analysis

M. Koornneef, C. Alonso-Blanco, P. Stam · MPG.PuRe (Max Planck Society) · 2006

Cited by 0

Genetic analysis

Smith, G.J.D., Bahl, J., Vijaykrishna, D. · National University of Singapore · 2016

Cited by 0

Genetic Analysis

Maarten Koornneef, Carlos Alonso‐Blanco, P. Stam · Humana Press eBooks · 1998

The genetic behavior of Arabidupsis is not different from that of other diploid organisms, and therefore one can find the topics of this chapter in almost any handbook of genetics. It is only owing to the specific (reproductive) biology of a species that sometimes a certain analytical procedure is favored over another one For Arabidopsis the fact that it is a self-fertilizing species and that it has relatively small flowers are important in this respect.

Cited by 8Open access

Genetic analysis

Koornneef, M., Alonso-Blanco, C., Stam, P. · Max Planck Institute for Plasma Physics · 2006

Cited by 0

Genetic analysis.

Koornneef, M., Stam, P. · Socio-Environmental Systems Modeling · 1992

Cited by 0Open access

Genetic Analysis

Marja‐Liisa Koljonen, Richard L. Wilmot · Elsevier eBooks · 2005

Cited by 8

Genetic analysis

Smith, G.J.D., Bahl, J., Vijaykrishna, D. · National University of Singapore · 2012

10.1007/978-1-61779-621-0_13

Cited by 0

Genetic analysis.

Koornneef, M., Stam, P. · Data Archiving and Networked Services (DANS) · 1992

Cited by 0

Genetic analysis.

Chenyu Zhao (8843171), DongFang Tang (8843174), Hui Huang (4122) et al. · Figshare · 2020

<p>(A) The pedigree with myotonia congenital and hypokalemic periodic paralysis type 2. (B) Sanger sequencing revealed a homozygous p.F306S <i>CLCN1</i> mutation in V: 5 and V: 6, while IV: 2 and VI: 3 carried a heterozygous sequence. There was a heterozygous p.R222W <i>SCN4A</i> mutation in V.7 and VI.3.</p>

Cited by 0Open access

Genetic analysis

Koornneef, M., Alonso-Blanco, C., Stam, P. · MPG.PuRe (Max Planck Society) · 2006

Cited by 0

Genetic Analysis

Maarten Koornneef, Carlos Alonso‐Blanco, P. Stam · Humana Press eBooks · 2006

The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance relationships between alleles of the same locus, and epistatic interactions with related genetic variants. A new variant should be compared with previously identified genetic variants, which is most efficiently done by allelism tests in case of recessive mutants. In addition the locus should be localized on the genetic and physical map by linkage analysis. The mapping of mutant loci in Arabidopsis is facilitated by the genomic resources available in Arabidopsis and often consists of two steps, a crude and a fine mapping, the latter enabling the approximate location of a variant on the sequence map of Arabidopsis.

Cited by 9

Genetic analysis

Acta Psychiatrica Scandinavica · 1957

Cited by 0

Genetic analysis

Koornneef, M., Alonso-Blanco, C., Stam, P. · Max Planck Digital Library · 2006

Cited by 0

Genetic analysis.

Isik Turker (438890), Takeru Makiyama (3079338), Matteo Vatta (185950) et al. · Figshare · 2016

<p>(A) Family tree. The filled square indicates the proband. (B) Abnormal migration pattern identified with DHPLC in the proband. (C) A nucleotide change (3982G>A) identified in the exon 23 of <i>SCN5A</i> (black arrow). (D) Schematic illustration of the SCN5A structure. The red closed circle with the arrowhead indicates the location of p.V1328M mutation.</p>

Cited by 0Open access

Genetic Analysis

Gavin J. D. Smith, Justin Bahl, Dhanasekaran Vijaykrishna · Methods in molecular biology · 2012

Genetic analysis of sequence data is central to determining the evolutionary history and molecular epidemiology of viruses, particularly those such as influenza A virus that have complex ecosystems involving multiple hosts. Here we provide an outline of routine phylogenetic analyses of influenza A viruses including multiple sequence alignment, selecting the best-fit evolutionary model and phylogenetic tree reconstruction using Neighbor joining, Maximum likelihood, and Bayesian inference.

Cited by 2Open access

Genetic Linkage Analysis

Stefan M. Pulst · Archives of Neurology · 1999

Genetic linkage analysis is a powerful tool to detect the chromosomal location of disease genes. It is based on the observation that genes that reside physically close on a chromosome remain linked during meiosis. For most neurologic diseases for which the underlying biochemical defect was not known, the identification of the chromosomal location of the disease gene was the first step in its eventual isolation. By now, genes that have been isolated in this way include examples from all types of neurologic diseases, from neurodegenerative diseases such as Alzheimer, Parkinson, or ataxias, to diseases of ion channels leading to periodic paralysis or hemiplegic migraine, to tumor syndromes such as neurofibromatosis types 1 and 2.

Cited by 102

Population genetic analysis.

Omar Echeverría (19106501), Mariana Angulo-Aguado (12894923), Ricardo Vela (19106504) et al. · Figshare · 2024

<div><p>Clopidogrel is widely used worldwide as an antiplatelet therapy in patients with acute coronary disease. Genetic factors influence interindividual variability in response. Some studies have explored the polygenic contributions in the drug response, generating pharmacogenomic risk scores (PgxPRS). Importantly, these factors are less explored in underrepresented populations, such as Latin-American countries. Identifying patients at risk of high-on-treatment platelet reactivity (HTPR) is highly valuable in translational medicine. In this study we used a custom next-generation sequencing (NGS) panel composed of 91 single nucleotide polymorphisms (SNPs) and 28 genes related to clopidogrel metabolism, to analyze 70 patients with platelet reactivity values, assessed through closure time (CT). Our results demonstrated the association of SNPs with HTPR and non-HTPR, revealing the strongest associations with rs2286823 (OR: 5,0; 95% CI: 1,02–24,48; p: 0,03), rs2032582 (OR: 4,41; 95% CI: 1,20–16,12; p: 0,019), and rs1045642 (OR: 3,38; 95% CI: 0,96–11,9; p: 0,05). Bivariate regression analysis demonstrated the significant association of several SNPs with the CT value, a “surrogate” biomarker of clopidogrel response. Exploratory results from the LASSO regression model showed a high discriminatory capacity between HTPR and non-HTPR patients (AUC: 0,955), and the generated PgxPRS demonstrated a significant negative association between the risk score, CT value, and the condition of HTPR and non-HTPR. To our knowledge, our study addresses for the first time the analysis of the polygenic contribution in platelet reactivity using NGS and establishes PgxPRS derived from the LASSO model. Our results demonstrate the polygenic implication of clopidogrel response and offer insights applicable to the translational medicine of antiplatelet therapy in an understudied population.</p></div>

Cited by 0Open access

GENETIC‐STATISTICAL ANALYSIS

Acta Medica Scandinavica · 1962

Cited by 0