Genomics Services

Technical Services

NEORABIO

Technical Services

Genomics Services
Genomics Services
Neorabio's genomics services are built on an integrated technical workflow that connects standardized sample preparation, next-generation sequencing, and controlled bioinformatics analysis. In variant discovery and genotyping, Neorabio applies analytical logic consistent with the framework proposed by DePristo et al. (2011), in which read alignment quality, recalibration, and variant confidence assessment are treated as interdependent steps rather than isolated procedures. This analytical strategy is further aligned with the Genome Analysis Toolkit best practices pipeline formalized by Van der Auwera et al. (2013), enabling reproducible processing of sequencing data across projects while minimizing technical bias introduced during computational analysis.

About Service

Neorabio's genomics services are built on an integrated technical workflow that connects standardized sample preparation, next-generation sequencing, and controlled bioinformatics analysis. In variant discovery and genotyping, Neorabio applies analytical logic consistent with the framework proposed by DePristo et al. (2011), in which read alignment quality, recalibration, and variant confidence assessment are treated as interdependent steps rather than isolated procedures. This analytical strategy is further aligned with the Genome Analysis Toolkit best practices pipeline formalized by Van der Auwera et al. (2013), enabling reproducible processing of sequencing data across projects while minimizing technical bias introduced during computational analysis.

Our Scope

● Whole Genome Sequencing (WGS)
● Genome-wide profiling of genetic variation across coding and non-coding regions
● Whole Exome Sequencing (WES)
● Targeted sequencing of protein-coding regions to support functional interpretation of genetic variants
● Targeted Sequencing
● Custom or predefined gene panels for focused investigation of specific genes, pathways, or phenotypic traits

Applications

● Identification and characterization of germline or somatic genetic variants
● Investigation of genomic alterations underlying disease mechanisms
● Population and comparative genomics analyses
● Candidate gene and pathway-focused sequencing studies
● Generation of genomic datasets supporting integrative transcriptomic, epigenomic, or proteomic analyses

Workflow

Exploratory Consultation → Sample & Sequencing Strategy Alignment → Library Preparation & Sequencing Execution → Variant Detection & Quality Control → Functional Annotation & Interpretation → Final Report Delivery & Technical Review

References

Metzker, M. L. Sequencing technologies — the next generation. Nature Reviews Genetics, 2010, 11(1): 31–46. DOI: 10.1038/nrg2626
The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature, 2015, 526: 68–74. DOI: 10.1038/nature15393
DePristo, M. A., et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature Genetics, 2011, 43(5): 491–498. DOI: 10.1038/ng.806
Van der Auwera, G. A., et al. From FastQ data to high-confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Current Protocols in Bioinformatics, 2013, 43: 11.10.1–11.10.33. DOI: 10.1002/0471250953.bi1110s43

Inquiry Center

Project execution at Neorabio is supported by defined quality control checkpoints that monitor data integrity from sequence alignment through final variant annotation. To ensure traceability and compatibility with downstream analysis, sequencing reads are processed using alignment strategies originally described by Li and Durbin (2009), while variant and alignment outputs are organized using standardized data structures based on the Sequence Alignment/Map specification. By anchoring deliverables to these widely adopted community standards, Neorabio provides annotated datasets and structured documentation that can be reliably reused in functional validation and integrative multi-omics research.
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