Research Library
The top resource for free research, white papers, reports, case studies, magazines, and eBooks.
Close
- Agriculture
- Automotive
- Career
- Construction
- Education
- Engineering
- Broadcast Engineering
- Chemical
- Civil and Environmental
- Control Engineering
- Design Engineering
- Electrical Engineering
- GIS
- General Engineering
- Industrial Engineering
- Manufacturing Engineering
- Materials Science
- Mechanical Engineering
- Medical Devices
- Photonics
- Power Engineering
- Process Engineering
- Test and Measurement
- Finance
- Food and Beverage
- Government
- Healthcare and Medical
- Human Resources
- Information Technology
- Data Infrastructure
- Data Tools
- Desktops, Laptops and OS
- Chip Sets
- Collaboration Tools
- Desktop Systems - PCs
- Email Client
- Embedded Systems
- Hardware and Periferals
- Laptops
- Linux - Open Source
- Mac OS
- Memory Components
- Mobile Devices
- Presentation Software
- Processors
- Spreadsheets
- Thin Clients
- Upgrades and Migration
- Windows 7
- Windows Vista
- Windows XP
- Word Processing
- Workstations
- Enterprise Applications
- IT Infrastructure
- IT Management
- Networking and Communications
- Bluetooth
- DSL
- GPS
- GSM
- Industry Standard Protocols
- LAN - WAN
- Management
- Mobile - Wireless Communications
- Network
- Network Administration
- Network Design
- Network Disaster Recovery
- Network Interface Cards
- Network Operating Systems
- PBX
- RFID
- Scalability
- TCP - IP
- Telecom Hardware
- Telecom Regulation
- Telecom Services
- Telephony Architecture
- Unified Communications
- VPNs
- VoIP - IP Telephony
- Voice Mail
- WAP
- Wi-Fi (802.11)
- WiMAX (802.16)
- Wide Area Networks (WAN)
- Wireless Internet
- Wireless LAN
- Security
- Servers and Server OS
- Software and Web Development
- .Net Framework
- ASPs
- Application Development
- Application Servers
- Collaboration
- Component-Based
- Content Management
- E-Commerce - E-Business
- Enterprise Applications
- HTML
- IM
- IP Technologies
- Integration
- Internet
- Intranet
- J2EE
- Java
- Middleware
- Open Source
- Programming Languages
- Quality Assurance
- SAAS
- Service-Oriented Architecture (SOA)
- Software Engineering
- Software and Development
- Web Design
- Web Design and Development
- Web Development and Technology
- XML
- Storage
- Life Sciences
- Lifestyle
- Management
- Manufacturing
- Marketing
- Meetings and Travel
- Multimedia
- Operations
- Retail
- Sales
- Trade/Professional Services
- Utility and Energy
- View All Topics
- Featured eBooks
- Trending Resources
- New Resources
- Promote Your Content
- Partnership Opportunities
- Get RSS Updates
- About TradePub.com
- FAQ
- Contact Us
Share Your Content with Us
on TradePub.com for readers like you. LEARN MORE
Request Your Free On-Demand Webinar Now:
"The Challenge of Sequencing SMN1/2 Genes for Spinal Muscular Atrophy Research"
"The Challenge of Sequencing SMN1/2 Genes for Spinal Muscular Atrophy Research"
The most severe forms of spinal muscular atrophy (SMA) are considered to be a leading genetic cause of infant mortality. As a result, SMA is a very important disorder for carrier screening research studies.
SMN1 and SMN2 are very similar in sequence: the functional difference between the two is a single nucleotide change—from a cytosine to a thymine in exon 7. This homology presents special challenges for NGS technologies commonly used in expanded carrier screening research.
In this eCase study, Dr. Harris presents case examples to illustrate how the Ion Torrent™ CarrierSeq™ ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.
Offered Free by: Thermo Fisher Scientific
See All Resources from: Thermo Fisher Scientific
Recommended for Professionals Like You:
Thank you
This download should complete shortly. If the resource doesn't automatically download, please, click here.
Thank you
This download should complete shortly. If the resource doesn't automatically download, please, click here.
Thank you
This download should complete shortly. If the resource doesn't automatically download, please, click here.
Thank you
This download should complete shortly. If the resource doesn't automatically download, please, click here.
