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Генетическая диагностика глазных болезней
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Диагностируем:
· Катаракта
· Глаукома
· Макулярная дегенерация
· Близорукость
· Пигментный ретинит
· Дистрофии сетчатки
· Дистрофии роговицы
· Увеиты
· Ретинобластома
· Амавроз Лебера
· Микрофтальм
· Анофтальм
· Аксенфельда-Ригера
· Ваарденбурга синдром
· Ретиношизис
· Косоглазие
· Выезд окулиста на дом
· Синдром Ашера
· Редкие болезни
 
 
Обучение
· Конференции
· Книги по офтальмогенетике
· Книга О.В. Хлебниковой Наследственная патология органа зрения
· Методы исследования в офтальмологии
· Классификация наследственных болезней сетчатки
· Критерии клинической классификации
· Форум по молекулярной медицине 2013
· Анализ геномных NGS данных
 
 
Пороки развития
· размеров и формы глаза
· придаточного аппарата
· роговицы
· сосудистой оболочки глаза
· хрусталика
· сетчатки
· зрительного нерва
· МУТАНТНЫЕ БЕЛКИ
 
 
Типы диагностики
· CLIA - что это?
· Кариотипирование
· FISH анализ
· SKY тест
· SSDGE или SSCP
· DGGE
· RFLPs
· Специфичный микрочип
· Типичный микрочип
· Прямое секвенирование
 
 
Панели тестов
· Панель "цилиопатии"
· Панель "пигментный ретинит"
· Панель "все глазные заболевания"
· Животные модели
· Пигментный ретинит: новости 2013
· Метаболизм сетчатки
· Дегенерация сетчатки и клеточная биология
 
 

Компании по интерпретации геномных данных NGS

Name Website Notes
Abiomics http://www.abiomics.eu Bioinformatics
Accelerys http://accelrys.com Bioinformatics
Active Motif http://www.activemotif.com Acquired TimeLogic
AgileBio http://www.agilebio.com Custom bioinformatics
Annai Systems http://www.annaisystems.com Genome data management (Developed UCSC Cancer Genomics Hub)
Appistry http://www.appistry.com Data management, analysis, interpretation & storage (NGS/Other)
Ariadne Genomics http://www.ariadnegenomics.com Expression, pathways, text mining
aScidea http://www.ascidea.com Bioinformatics solutions including NGS products
Aspera http://www.asperasoft.com Fast efficient method for high-speed data transfer
AssurX http://www.assurx.com Risk and compliance management software for clinical NGS
Atragene http://ri.atragene.com Custom software solutions (NGS interpretation?)
Avadis http://www.avadis-ngs.com NGS through pathway analysis
Baseclear http://www.baseclear.com NGS, comprehensive
Bina Technologies http://www.binatechnologies.com NGS interpretation, comparison
Biobase http://www.biobase-international.com Identify functionally significant genome variants
Biocomputing Platforms Ltd http://www.bcplatforms.com NGS and variation data analysis and management
BioCOS Life Sciences http://www.biocosls.in NGS and microarray interpretation
BioDiscovery http://www.biodiscovery.com Copy number, expression, NGS
Bioinformatics Solutions http://www.bioinformaticssolutions.com Mapping
Biomatters http://www.biomatters.com Producers of Geneious
Biomol-Informatics http://www.biomol-ngs.com including NGS analysis
BioNeos http://bioneos.com Custom bioinformatics
Bionivid http://www.bionivid.com Bioinformatics services and development
Biosof http://www.bio-sof.com Sequence Analysis, Structure and Function Prediction
Bioteam http://www.bioteam.net MiniLIMS for NGS platforms
BMR Genomics http://www.bmr-genomics.com Assembly through interpretation
Cartagenia http://www.cartagenia.com web-based software and database, for diagnostic genome interpretation
cBio http://www.cbiocorp.com bioinformatics solutions (NGS and microbial diagnostics)
ChunLab www.chunlab.com NGS data analysis solutions
CLC Bio http://www.clcbio.com Comprehensive, Including NGS
Conexio Genomics http://www.conexio-genomics.com Next gen software for HLA and other applications
CSBI Link dead as of June 2013 Software and training in bioinformatics
Cypher Genomics http://cyphergenomics.com Interpretation of NGS data, clinical
Diagnomics http://www.diagnomics.com Software and service for NGS and personalized healthcare
DNA 2.0 https://www.dna20.com Tools for gene design through sequence analysis
DNA Guide http://dnaguide.blogspot.com Bring NGS to clinic
DNAlytics http://www.dnalytics.com Data Mining & IT solutions for personalized medicine
DNAnexus http://dnanexus.com Cloud-based DNA data management, analysis, and collaboration platform
DNASoftware http://www.dnasoftware.com Multiple DNA analysis packages
DNAstar http://www.dnastar.com NGS, assembly, other
Douglas Scientific http://www.douglasscientific.com Microarray, qPCR etc
Eagle Genomics http://www.eaglegenomics.com Pipelines, consulting, scalable genomics analysis
ecSeq Bioinformatics http://www.ecseq.com NGS interpretation, custom pipelines
Era7 Bioinformatics http://www.era7bioinformatics.com Bacterial genomics
Euformatics http://www.euformatics.com Software platforms for NGS (research and clinical)
Existance Genetics Bankrupt. Website offline Tertiary analysis (clinical interpretation) and reporting of NGS data
Fluidigm http://www.fluidigm.com Expression, targeted resequencing, SNP
Gataca http://www.gatacallc.com database construction, genomic analysis, bioinformatics algorithm construction
GE Healthcare http://ge.geglobalresearch.com Bring NGS to clinic
Genalice BV www.genalice.com very accurate and fast (up to 100 x faster than BWA) short read aligner
GenDx http://www.gendx.com/index.php/company HLA typing
Gene Codes http://www.genecodes.com Bioinformatics software for DNA sequence analysis
GeneExplain http://www.genexplain.com Expression, proteomics
GeneGo (Thomson Reuters) http://www.genego.com pathway analysis
Geneious http://www.Geneious.com NGS assembly through annotation
GeneSpring (Agilent) http://www.genomics.agilent.com Gene expression, NGS and proteomics analysis, pathways
Genestack https://genestack. com NGS data management, analysis and storage. Genomics R&D
Genevia Technologies http://www.genevia.fi systems biological data analysis
GenoLogics http://genologics.com LIMS systems for -omics labs
Genomatix http://www.genomatix.de NGS analysis software
Genome Enterprise Limited http://www.genome-enterprise.com NGS analysis associated with TGAC
GenomeQuest http://www.genomequest.com NGS: research and clinical applications
Genomic Expression http://www.genomicexpression.com Proprietary cost-effective genomics diagnostics
Genomic Solutions http://bioinformatics.genomicsolutions.com proteomics, DNA sample prep
GenoSpace http://www.genospace.com Cloud based 'omics secure data sharing targeting clinical applications
Genostar http://www.genostar.com Solutions for microbial genome, proteome and metabolome comparison
Geospiza http://www.geospiza.com NGS/Microarray analysis and LIMS software
GNS healthcare http://www.gnshealthcare.com Big Data management devoted to healthcare solutions
Golden Helix http://www.goldenhelix.com Multiple genomics packages
Heracle BioSoft S.R.L. http://www.dnabaser.com Heracle makes DNABaser Assembly software
Igenbio.Inc www.igenbio.com Advanced bioinformatics services
Ingenuity Systems http://www.ingenuity.com Genome, pathway analysis
InSilicoDB http://insilico.ulb.ac.be Genomics databases and in-silico genomics tools
Integromics http://www.integromics.com Data handling and analysis for NGS, microarray, qPCR
Interactive Biosoftware http://www.interactive-biosoftware.com Visualization, interpretation and annotation of NGS data
Intrepid Bioinformatics http://www.intrepidbio.com NGS, SNP, Databases
IntuitiveGenomics http://www.intuitivegenomics.com NGS assemply, annotation, interpretation
Invitae http://www.invitae.com Working with Genomic Health and Locus Dev. (variant database)
JMP Genetics http://www.jmp.com Solutions for research, clinical, and agricultural genomics
JSI Medical Systems http://www.jsi-medisys.com NGS analysis software
Knome http://knome.com NGS interpretation, clinical
Korilog http://www.korilog.com Products based on Klast high perfomance Seq. Comparison tool
Kovid Bioanalytics www.kovidbioanalytics.com Statisitical Analysis, Genomics Data Mining, Clinical Informatics
Lab 7 systems www.lab7.io Integrates multiple NGS software packages coherently
Leucine Rich Bio http://www.leucinerichbio.com/ heuristic and statistical analysis of omics data and basic bioinf
Locus Development http://locusdevelopmentinc.com Bring NGS to clinic
Maverix Biomics www.maverixbio.com Cloud-based NGS data management, interpretation, and visualization
Microsoft http://www.microsoft.com Genomics
MolecularHealth http://MolecularHealth.com Molecular safety, molecular oncology
MultiD Analyses www.multid.se qPCR analysis software
NextBio http://www.nextbio.com Genomics, expression, literature, clinical
NuMedii http://numedii.com Genome-wide molecular profiles
Ocimum Biosolutions http://www3.ocimumbio.com Research Accelerator (for 'Omics comparison), extensive databases
Omicia http://www.omicia.com VAAST genome interpretation
Omixon http://www.omixon.com Targeted sequencing, HLA, variant analysis
OncoDNA http://www.oncodna.com Software packages for deep sequencing and cancer biomarker monitoring
Partek http://www.partek.com Software - NGS, expression etc.
Personalis http://www.personalis.com Interpretation of NGS data, clinical
Phenosystems http://www.phenosystems.com Software NGS and others
Premier Biosoft http://www.premierbiosoft.com Bioinformatics
Real Time Genomics http://www.realtimegenomics.com Sequence alignment through variant database comparison
Rimarcable http://www.rimarcable.nl Custom Software solutions (including healthcare applications)
Salsa Computing http://www.salsacomputing.com Big data, including bioinformatics
Samsunggenome http://www.samsunggenome.com NGS sequencing through interpretation
Sapio Sciences http://www.sapiosciences.com LIMS systems for genomics labs
Scale Genomics http://www.scalegenomics.com Cloud storage and analysis of NGS data (Domain seems to be parked)
ScaleMP http://www.scalemp.com Big data company, assembly through interpretation
Seven Bridges Genomics https://igor.sbgenomics.com NGS variant interpretation open source pipelines
SGI Http://www.sgi.com Big data company, assembly through interpretation
Silicon Valley Biosystems http://www.svbio.com NGS interpretation software
SimulConsult http://www.SimulConsult.com Genomic variant interpretation, phenomics
Soft Genetics Inc http://www.softgenetics.com NGS interpretation software packages
SolveBio http://www.solvebio.com Genome analysis
Spiral Genetics http://www.spiralgenetics.com Annotation
StationX http://www.stationxinc.com Genome interpretation
Strand Life Sciences http://www.strandls.com Genespring, Avadis-NGS
Syapse http://www.syapse.com Making omics data actionable in clinical research and development
Translational Software http://www.translationalsoftware.com Bring NGS to clinic
Woodward Informatics Ltd http://www.strychnine.co.uk Custom bio- and chemo-informatics
xGen Cybernetics www.xgencloud.com Bioinformatics, clinical genetics and predictive medicine
Zymo Research www.zymoresearch.com/services Bioinformatics for all NGS applications/epigenetic analysis

Материал собран Geoffrey Routh

 
 
 
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