Search results for "Sequencing"

Molecular cloning ofTrichophyton mentagrophytes DNA sequences with promoter activity inEscherichia coli

1992

A promoter probe library from the dermatophyte fungusTrichophyton mentagrophytes has been constructed in the pVB32 plasmid vector. Using this library, a set ofT. mentagrophytes DNA sequences with promoter activity inEscherichia coli has been cloned. The size and the resistance phenotype conferred by these DNA fragments varied. Southern blot analysis confirmed that they were derived fromT. mentagrophytes genomic DNA.

Basic issues in forensic DNA typing

1997

DNA analysis has become the standard method in forensic stain typing (termed DNA profiling). In contrast to conventional serological methods, any human tissue or body fluid can be analysed by DNA profiling as long as it contains nucleated cells. The majority of genetic systems studied at the DNA level are derived from "non-coding" portions from the human genome, and are located either in the vicinity of expressed (coding) genes or in stretches of DNA sequences interspersing with the genes. The typing results are usually recorded as DNA fragment lengths or "alleles" indicating the number of core repeat elements for short tandem repeat systems. These typing results do not contain any useful i…

A multiplex SNP typing approach for the DNA pyrosequencing technology

2006

Abstract We have developed a multiplex Pyrosequencing assay which enables the simultaneous analyses of 23 single nucleotide polymorphisms (SNPs) from the human genome selected by the SNPforID Consortium. In our investigations we have studied the multiplex capacity of the PSQ™ 96MA instrument (Biotage AB). To test the reliability of SNP typing by Pyrosequencing the SNPs were analysed in parallel by using the SNaPshot minisequencing technique as reference method.

PATHOGENIC VARIANTS WITHIN ACMG SECONDARY FINDINGS GENES IN 24,591 HEALTHY INDIVIDUALS USING CLINICAL EXOME SEQUENCING FOR CARRIER SCREENING

2020

Analysis of 100 HSP Exomes and Characterization of Mutations in Known Autosomal Dominant Genes (P05.166)

2012

Objective: Comprehensive screening of all known autosomal dominant HSP genes in a large cohort of patients. Background Hereditary spastic paraplegias comprise a group of clinically and genetically heterogeneous neurodegenerative disorders that share the common clinical feature of lower limb spastic paraplegia. Ten genes causing autosomal dominant HSP are known to date, together explaining about 60% of cases. Knowledge about frequency of HSP subtypes and genotype-phenotype correlation is limited by the fact that most screenings so far are biased due to phenotypic pre-selection of the study cohort or inhomogeneous a priori genetic diagnostic testing. Design/Methods: We have screened a large c…

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

2017

Piwi proteins and piRNAs in mammalian oocytes and early embryos: From sample to sequence

2015

AbstractThe role of the Piwi/piRNA pathway during mammalian oogenesis has remained enigmatic thus far, especially since experiments with Piwi knockout mice did not reveal any phenotypic defects in female individuals. This is in striking contrast with results obtained from other species including flies and zebrafish. In mouse oocytes, however, only low levels of piRNAs are found and they are not required for their function. We recently demonstrated dynamic expression of PIWIL1, PIWIL2, and PIWIL3 during mammalian oogenesis and early embryogenesis. In addition, small RNA analysis of human, crab-eating macaque and cattle revealed that piRNAs are also expressed in the female germline and closel…

Complete genome of a European hepatitis C virus subtype 1g isolate: phylogenetic and genetic analyses

2008

Abstract Background Hepatitis C virus isolates have been classified into six main genotypes and a variable number of subtypes within each genotype, mainly based on phylogenetic analysis. Analyses of the genetic relationship among genotypes and subtypes are more reliable when complete genome sequences (or at least the full coding region) are used; however, so far 31 of 80 confirmed or proposed subtypes have at least one complete genome available. Of these, 20 correspond to confirmed subtypes of epidemic interest. Results We present and analyse the first complete genome sequence of a HCV subtype 1g isolate. Phylogenetic and genetic distance analyses reveal that HCV-1g is the most divergent su…

Decreasing the Number of Gaps in the Draft Assembly of theMannheimia Haemolytica M7/2 Genome Sequence

2009

Proposal of a Genome Editing System for Genetic Resistance to Tomato Spotted Wilt Virus

2014

Viruses provoke considerable economical losses in agriculture. New molecular approaches to develop genetic resistance based on translational genomics and precision genetic modifications are highly expected. The type II Clustered, Regularly Interspaced Palindromic Repeats (CRISPR) system including Cas9 nuclease represent a promising and very powerful tool to specifically modulate the expression and activity of genes involved in biotic stress responses. In this study, we describe an approach to develop a platform system based on CRISPR system for genome editing technology in tomato. Tomato is an excellent plant for this approach considering the high-quality genome sequence, the rapid life cyc…