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Design and Implementation of a Geis for the Genomic Diagnosis using the SILE Methodology. Case Study: Congenital Cataract
2018
Proceedings of the 13th International Conference on Evaluation of Novel Approaches to Software Engineering
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This work defines a GeIS for the preventive diagnosis of "congenital cataracts", whose condition is not related to age and lifestyle, but to the genetic component of each person. ...
However, the information that the humans contain within the genome represents a great challenge related to the processing and management of their biological information, whose success will depend directly ...
ACKNOWLEDGEMENTS The authors would like to thank the members of the PROS Research Centre Genome group for the fruitful discussions regarding the application of CM in the medicine field. ...
doi:10.5220/0006705802670274
dblp:conf/enase/Navarrete-Hidalgo18
fatcat:t66gj2go2ng5zfl5kdpg7wyaxi
Investigating the Effects of Amino Acid Variations in Human Menin
2022
Molecules
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The structural analyses are freely accessible online by means of a web interface that integrates also a 3D visualization of the structure of the wild-type and variant proteins. ...
, predicting the amino acid variations that change secondary structure, solvent accessibility, salt-bridge and H-bond interactions, protein thermostability, and altering the capability to bind known protein ...
Conflicts of Interest: The authors declare no conflict of interest. ...
doi:10.3390/molecules27051747
pmid:35268848
pmcid:PMC8911756
fatcat:2wj2xo3afrezdp4nfato64gzou
Reliability of Neonatal Screening Results
2018
International Journal of Neonatal Screening
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Collaborative Laboratory Integrated Reports (CLIR 2.09; https://clir.mayo.edu) is a second-generation web application that maintains an interactive database of laboratory results from multiple sites. ...
cut-off values to other programs or databases. ...
doi:10.3390/ijns4030028
pmid:33072949
pmcid:PMC7510242
fatcat:pcbh2jowovdmnerbpddhjpcb5i
Planning the Human Variome Project: The Spain report
2009
Human Mutation
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specific databases (LSDB). ...
A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. ...
., 2007) , mostly web accessible. ...
doi:10.1002/humu.20972
pmid:19306394
pmcid:PMC5879779
fatcat:b4zgokrx2rddpi6uw35owbjvme
EMBnet.journal 18 Suppl. A
2012
EMBnet journal
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Protein Structure and Function Acknowledgments This work was supported by NFSR of Bulgaria project DVU 01/197. ...
From the web site interface, scientists can dynamically access a number to different repositories where public data about protein domain composition, aminoacidic sequence, 3D structure, protein-protein ...
In particular, the accession codes are linked to the other important databases like Uniprot, Protein Databank, Entrez gene. ...
doi:10.14806/ej.18.a.497
fatcat:2aexioifkfgfnipbo3btxqwvia
ISNS 9th International Symposium, The Hague, The Netherlands, September 11–14, 2016
2016
International Journal of Neonatal Screening
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To increase the availability and accessibility of newborn screening for congenital hypothyroidism and overcome the limitations of conventional DBS screening approaches, we have developed a point-of-care ...
Zhejiang Province screening center database. ...
doi:10.3390/ijns2030005
fatcat:7ad7pzbvjjgufo7zawl2ifcuve
Gut Microbiota Dysbiosis Is Associated with Altered Bile Acid Metabolism in Infantile Cholestasis
2019
mSystems
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The reduced concentration of fecal BAs in infantile CJ was associated with the overgrowth of gut bacteria with a pathogenic potential and the depletion of those with a potential benefit. ...
An increased ratio of deoxycholic acid (DCA)/CA was observed in a proportion of infants with CJ. ...
Taxonomic assignment was performed by using the Ribosomal Database Project (RDP) classifier. Statistical analysis was performed with the Calypso web server (39) . ...
doi:10.1128/msystems.00463-19
pmid:31848302
pmcid:PMC6918028
fatcat:43mnbi6t2ncynkzdzw7trfn5bu
PANTHER: A Library of Protein Families and Subfamilies Indexed by Function
2003
Genome Research
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The publication costs of this article were defrayed in part by payment of page charges. ...
Profile methods combine algorithms with databases: A group of related sequences is used to build a statistical representation of corresponding positions in the related proteins. ...
Not surprisingly, then, F294Y is associated with galactosemia. ...
doi:10.1101/gr.772403
pmid:12952881
pmcid:PMC403709
fatcat:i6ykril2xja4pdgtfzj6iybxnm
Abstracts for the 34th HGSA Annual Scientific Meeting, Melbourne, Australia November 16-18, 2010
2010
Twin Research and Human Genetics
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Introduction: The congenital disorders of protein glycosylation are a family of enzyme defects in assembly (Type I), transfer, and remodeling (Type II) of glycan structures to proteins. ...
Technologies developed in the research laboratory, especially those for analysis of many genes at a time, are being adapted to the clinical laboratory setting, and bringing with them issues related to ...
Many internet-accessible relational databases with details of genetic variants within disease-associated genes are now available. ...
doi:10.1375/twin.13.6.620
fatcat:waz3wo2snrgdjigvmen5y2qtaq
Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters
2018
European Journal of Human Genetics
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Lastly, the mutation may cause to physical defect on protein and native three dimensional structure. ...
A total of 118 prenatal samples from patients with abnormal ultrasound were selected, 58 of then were chorionic villus sampling (CVS) and 60 amniocentesis. karyotype and array CGH was performed in all ...
We have filtered a set of unique variants in the EEC patient that affect a network of upstream regulators common with HCC. ...
doi:10.1038/s41431-018-0248-6
fatcat:t6rlgbruivelldklufqdlzqmtu
Abstracts for the 36th Human Genetics Society of Australasia Annual Scientific Meeting Canberra, Australia, July 22–25, 2012
2012
Twin Research and Human Genetics
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Subjects: Adults with PKU diagnosed either via newborn screening (NBS) or late, following a restricted protein diet and taking a phenylalanine free supplement, seen at the Royal Adelaide Hospital metabolic ...
The characteristics of the diet for PKU means investigating obese related metabolic complications in this group may be of interest. ...
Conclusion: A mutation was identified in 56% of HCM probands who accessed genetic testing. ...
doi:10.1017/thg.2012.45
fatcat:b5uafccw35daxhuzpmhomgyxma
Screening Pathways through China, the Asia Pacific Region, the World
2019
International Journal of Neonatal Screening
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The International Society for Neonatal Screening (ISNS) has met regularly at both international meetings and those of the various chapters[...] ...
Huge number of people needed hospitalization and blood transfusion, with their condition to access to limited health facilities and related resources of blood bank. ...
Screening positive children are recalled for diagnosis through a web platform covered Wuhan. ...
doi:10.3390/ijns5030026
pmid:33072985
pmcid:PMC7510188
fatcat:3y6yescmijgatfyypjxzpeosma
Gramene (rice and other grasses database)
[chapter]
2008
Encyclopedia of Genetics, Genomics, Proteomics and Informatics
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G b : ▶G αβγ
G-BASE: Genomic database of mouse, for access see
Mouse Genome Database, Encyclopedia of the
Mouse Genome. ...
The genetic and ethical problems relevant to inheritable genetic modification of humans can be accessed on the WEB: http://www.aaas.org/spp/sfrl/ projects/germline/report.pdf . ...
The mammalian Grp94 (member of the Hsp90 family of proteins) chaperones are a small number of proteins and are suspected to be involved in antigen presentation and tumor rejection. ...
doi:10.1007/978-1-4020-6754-9_7111
fatcat:dsqojxeco5gwhgpgdcm22jb33y
Gout
[chapter]
2008
Encyclopedia of Genetics, Genomics, Proteomics and Informatics
Preserved Fulltext
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The file type is application/pdf.
G b : ▶G αβγ
G-BASE: Genomic database of mouse, for access see
Mouse Genome Database, Encyclopedia of the
Mouse Genome. ...
The genetic and ethical problems relevant to inheritable genetic modification of humans can be accessed on the WEB: http://www.aaas.org/spp/sfrl/ projects/germline/report.pdf . ...
The mammalian Grp94 (member of the Hsp90 family of proteins) chaperones are a small number of proteins and are suspected to be involved in antigen presentation and tumor rejection. ...
doi:10.1007/978-1-4020-6754-9_7078
fatcat:igkfa5bydfeehhe7ekrw5dudny
Disorders of phenylalanine and tyrosine metabolism
2020
Translational Science of Rare Diseases
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U n c o r r e c t e d A u t h o r P r o o f Translational Science of Rare Diseases xx (20xx) x-xx ...
(Figure 14 in the first book). variants have been reported in the HGD gene [HGD mutation database] [217]. ...
Following the sta-873 bilization of the patient, a low intact dietary protein that is age-appropriate must be initiated. ...
doi:10.3233/trd-200049
fatcat:jytndcmh5jcizntnu3xwhihtga
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