Loading Video...
Home | Account
Home Signin Register
About Us | NTHRYS WHATSAPP Contact Us
About NTHRYS Contact Us NTHRYS WHATSAPP Help Desk
Products
All Products Organoids ECM Enzymes Secondary Metabolites ELISA KITs (6000+) Cell Lines Microbial Strains Probiotics & Postbiotics Neutraceuticals BioBank
Research Services
Research Projects
Govt. | Industrial Research Outsourcing NROID Research Solutions Research Design Analysis Assistance COA, Tests, Assays Reports Techno-Commercial Proposals Statistical Study Design Animal Studies Bio-Source Procurement Antibody Production Precision Medicine Medical Research
Academic Services
[PhD | Postdoc | Internships | Projects | Workshops etc..]
PhD - Assistance
Res. Methodology | Practicals | Publications | Thesis etc.. Abroad PhD Admission
Publications | Admission | Proposals | Scholarships etc.. Postdoc Placements
Global - All Fields PhD Publication Assistance
Drafts | Analysis | Scopus | SCI etc.. Projects
All Fields Publication Projects
All Fields Internships
Offline - All Fields Online Internships
All Fields Scientific Writing Internships
Offline / Online Training Programs
All Fields Workshops
All Fields
Green Services
[Desert Greening | Leachate Clearance etc..]
Terrapro Matrix [Desert Greening] Environmental Services Soil Water Air Bio-Medical Waste Sludge Leachate Forests Floods
Corporate & Industrial
[BI | AI | SI | Automations etc..]
Business Intelligence Systemic Intelligence Artificial Intelligence WorkANPs IoT Automation Algorithm Design Product Formulations SIDD S3
Join Aboard
[Franchisee | Placements etc..]
Franchise Opportunities Product Dealerships NTHRYS Placements Opportunities to Freelancers Co-Guideship
Terms & Conditions
[Privacy | Returns | Shipping etc..]
Terms & Conditions Returns Policy Shipping Policy Privacy Policy Refund Policy
Designed, Programmed, & Maintained by
Balaji S Rao
NTHRYS
Arrow

Germline Diagnostics & Carrier Screening Pipelines | Trio Analysis, CNV/SV, Residual Risk

NTHRYS >> Services >> Academic Services >> Training Programs >> Bioinformatics Training >> Clinical & Translational Bioinformatics / Precision Medicine >> Germline Diagnostics & Carrier Screening Pipelines | Trio Analysis, CNV/SV, Residual Risk

Germline Diagnostics & Carrier Screening Pipelines — Hands-on

Build auditable, production-grade pipelines for germline diagnostics and carrier screening. From raw reads to interpretive reports, learn trio/singleton analysis, inheritance-based prioritization, CNV/SV detection in germline contexts, residual risk calculations, and ACMG/AMP classification with clear, clinician-ready outputs.

Germline Diagnostics & Carrier Screening Pipelines
Help Desk · WhatsApp
Session 1
Fee: Rs 17120
Germline Pipeline Foundations
  • Pre-processing & calling (germline)
    • BWA MEM2 / GATK BQSR / dedup HaplotypeCaller (GVCF)
  • Quality metrics & coverage
    • %20x/%30x targets callability/gaps hard-to-sequence loci
  • Annotation & gene panels
    • VEP/snpEff clinically curated lists transcripts/MANE
Session 2
Fee: Rs 21320
Inheritance Models & Prioritization
  • Trio & singleton strategies
    • de novo / AR / AD / X-linked compound het segregation
  • Phenotype-driven ranking
    • HPO mapping OMIM/Orphanet gene–disease validity
  • Population & artifact filters
    • gnomAD/MAF thresholds low-complexity regions technical flags
Session 3
Fee: Rs 25520
CNV/SV in Germline & Carrier Screening
  • CNV calling (exon-level)
    • ExomeDepth/CNVkit reference panels QC & thresholds
  • Germline SV detection
    • Manta/GRIDSS (overview) breakpoint checks orthogonal MLPA/ddPCR
  • Carrier screening workflows
    • panel design & genes detection rate & coverage partner testing
Session 4
Fee: Rs 31120
Classification, Residual Risk & Reporting
  • ACMG/AMP classification (germline)
    • PVS1/PS/PM/PP BS/BP Bayesian adjustments
  • Residual risk & counseling notes
    • detection rate × prevalence ethnicity considerations VUS handling
  • Reports, reanalysis & QA
    • templates & disclaimers reclassification cadence audit trails & SOPs


PDF