Diffusion pattern of the use of genomic databases and analysis of biological sequences from 1970–2003: Bibliographic record analysis of 12 journals

2005 ◽  
Vol 57 (1) ◽  
pp. 44-50 ◽  
Author(s):  
Aviv Shachak
Keyword(s):  
Biological Sequences ◽  
Bibliographic Record ◽  
Genomic Databases ◽  
Diffusion Pattern

A Brief Review on Software Tools in Generating Chou’s Pseudo-factor Representations for All Types of Biological Sequences

2018 ◽  
Vol 25 (9) ◽  
pp. 822-829 ◽  
Author(s):  
Wei Zhao ◽  
Likun Wang ◽  
Tian-Xiang Zhang ◽  
Ze-Ning Zhao ◽  
Pu-Feng Du
Keyword(s):  
Software Tools ◽  
Biological Sequences

Progressive periphrases in language contact

2021 ◽  
Vol 74 (1) ◽  
pp. 109-127
Author(s):  
Rossella Maraffino
Keyword(s):  
Language Contact ◽  
The Other ◽  
Minority Languages ◽  
Internal Development ◽  
Other Hand ◽  
Alpine Area ◽  
Diffusion Pattern ◽  
The One

Abstract In this paper, I will deal with the diffusion pattern of the progressive periphrases (PROGPER) attested in the minority languages that are present in the areas of Swiss Grisons, Trentino-Alto Adige and Friulian Carnia. I will individualize on the one hand the vectors of diffusion between the standard languages and the minority varieties; on the other hand, I will explain the mechanism of adaptation or re-elaboration of the borrowed structure in the replica language. Finally, I will pinpoint which of this structure replication seems to be the result of an internal development witnessed in the Alpine area.

scholarly journals Current challenges and opportunities for pharmacogenomics: perspective of the Industry Pharmacogenomics Working Group (I-PWG)

2021 ◽  
Author(s):  
Karina Bienfait ◽  
Aparna Chhibber ◽  
Jean-Claude Marshall ◽  
Martin Armstrong ◽  
Charles Cox ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Working Group ◽  
Direct Sequencing ◽  
Risk Scores ◽  
Pharmaceutical Companies ◽  
Patient Privacy ◽  
Clinical Implementation ◽  
Genomic Databases ◽  
Group I ◽  
Trial Participants

AbstractPharmaceutical companies have increasingly utilized genomic data for the selection of drug targets and the development of precision medicine approaches. Most major pharmaceutical companies routinely collect DNA from clinical trial participants and conduct pharmacogenomic (PGx) studies. However, the implementation of PGx studies during clinical development presents a number of challenges. These challenges include adapting to a constantly changing global regulatory environment, challenges in study design and clinical implementation, and the increasing concerns over patient privacy. Advances in the field of genomics are also providing new opportunities for pharmaceutical companies, including the availability of large genomic databases linked to patient health information, the growing use of polygenic risk scores, and the direct sequencing of clinical trial participants. The Industry Pharmacogenomics Working Group (I-PWG) is an association of pharmaceutical companies actively working in the field of pharmacogenomics. This I-PWG perspective will provide an overview of the steps pharmaceutical companies are taking to address each of these challenges, and the approaches being taken to capitalize on emerging scientific opportunities.

scholarly journals Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

2021 ◽  
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
John A. Sayer ◽  
Olafur S. Indridason ◽  
Vidar O. Edvardsson ◽  
Brynjar O. Jensson ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Autosomal Recessive Disorder ◽  
European Population ◽  
Adenine Phosphoribosyltransferase ◽  
Genomic Databases ◽  
Pathogenic Variants ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Variation Database ◽  
The Uk ◽  
Aprt Deficiency

AbstractAdenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, although it has been suggested that missed diagnoses may play a role. We assessed the prevalence of APRT deficiency based on the frequency of causally-related APRT sequence variants in a diverse set of large genomic databases. A thorough search was carried out for all APRT variants that have been confirmed as pathogenic under recessive mode of inheritance, and the frequency of the identified variants examined in six population genomic databases: the deCODE genetics database, the UK Biobank, the 100,000 Genomes Project, the Genome Aggregation Database, the Human Genetic Variation Database and the Korean Variant Archive. The estimated frequency of homozygous genotypes was calculated using the Hardy-Weinberg equation. Sixty-two pathogenic APRT variants were identified, including six novel variants. Most common were the missense variants c.407T>C (p.(Met136Thr)) in Japan and c.194A>T (p.(Asp65Val)) in Iceland, as well as the splice-site variant c.400 + 2dup (p.(Ala108Glufs*3)) in the European population. Twenty-nine variants were detected in at least one of the six genomic databases. The highest cumulative minor allele frequency (cMAF) of pathogenic variants outside of Japan and Iceland was observed in the Irish population (0.2%), though no APRT deficiency cases have been reported in Ireland. The large number of cases in Japan and Iceland is consistent with a founder effect in these populations. There is no evidence for widespread underdiagnosis based on the current analysis.

SSMBS: a web server to locate sequentially separated motifs in biological sequences

2009 ◽  
Vol 43 (1) ◽  
pp. 203-205 ◽  
Author(s):  
Chetan Kumar ◽  
K. Sekar
Keyword(s):  
Amino Acids ◽  
Web Server ◽  
Nucleotide Sequences ◽  
Regular Expressions ◽  
Biological Sequences ◽  
Sequence Motifs ◽  
Specific Order ◽  
The Web

The identification of sequence (amino acids or nucleotides) motifs in a particular order in biological sequences has proved to be of interest. This paper describes a computing server,SSMBS, which can locate and display the occurrences of user-defined biologically important sequence motifs (a maximum of five) present in a specific order in protein and nucleotide sequences. While the server can efficiently locate motifs specified using regular expressions, it can also find occurrences of long and complex motifs. The computation is carried out by an algorithm developed using the concepts of quantifiers in regular expressions. The web server is available to users around the clock at http://dicsoft1.physics.iisc.ernet.in/ssmbs/.

scholarly journals A singular value decomposition approach for improved taxonomic classification of biological sequences

BMC Genomics ◽  
2011 ◽  
Vol 12 (Suppl 4) ◽  
pp. S11 ◽  
Author(s):  
Anderson R Santos ◽  
Marcos A Santos ◽  
Jan Baumbach ◽  
John A McCulloch ◽  
Guilherme C Oliveira ◽  
...  
Keyword(s):  
Singular Value Decomposition ◽  
Singular Value ◽  
Taxonomic Classification ◽  
Biological Sequences ◽  
Decomposition Approach ◽  
Value Decomposition
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