Genome Sequencing Data Analysis
Solutions
Flexibility
We offer fully automated bioinformatics pipelines and software which are installed onto client’s local systems or onto servers provided by LGG. Alternatively, all analyses can be performed on our cloud systems. LGG also provides genome sequencing data analysis full services, delivering fully interpreted genetic results from raw genome sequencing data.
Scalability
We provide high-performance servers dedicated to bioinformatics analyses which are suitable for low to high-throughput projects and services.
Reliability
Our bioinformatics analysis pipelines were developed at the Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong. Detected genetic variants are annotated with RefSeq Genes, DeCIPHER, ClinGen, OMIM, DGV, and more
Genome Sequencing Data Analysis Specifications
References:
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Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics. Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton C, Choy KW. Genet Med. 2021 Jul;23(7):1225-1233.
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Low-pass genome sequencing: a validated method in clinical cytogenetics. Chau MHK, Wang H, Lai Y, Zhang Y, Xu F, Tang Y, Wang Y, Chen Z, Leung TY, Chung JPW, Kwok YK, Chong SC, Choy KW, Zhu Y, Xiong L, Wei W, Dong Z. Hum Genet. 2020 Nov;139(11):1403-141.
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Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Wang H, Dong Z, Zhang R, Chau M, Yang Z, Tsang K, Wong HK, Gui B, Meng Z, Xiao K, Zhu X, Wang Y, Chen S, Leung TY, Cheung SW, Kwok YK, Morton CC, Zhu Y, Choy KW. Genet Med, 2020 Mar;22(3):500-510.
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Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, Wang WJ, Xu F, Guo X, Cao Y, Zhu Z, Geng C, Cheung WC, Kwok YK, Yang H, Leung TY, Morton CC, Cheung SW, Choy KW. Genet Med. 2018 Jul;20(7):697-707
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Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing. Dong Z, Ye L, Yang Z, Chen H, Yuan J, Wang H, Guo X, Li Y, Wang J, Chen F, Cheung SW, Morton CC, Jiang H, Choy KW. Curr Protoc Hum Genet. 2018 Jan 24;96:8.18.1-8.18.
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Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing. Dong Z, Xie, W, Chen, H, Xu, J, Wang, H, Li, Y, Wang, J, Chen, F, Choy KW, Jiang H. Curr Protoc Hum Genet 2017 Jul 11;94:8 17 1-8 17 16.
CHROMOSEEK SOFTWARE SUITE
ChromoSeek software provides advanced data analysis tools for genomic variant analysis. The software offers simple and streamlined workflow from data import, visualization, and tools to assist variant interpretation
EFFICIENT AND CONVENIENT ASSISTANCE FOR VARIANT INTERPRETATION
Applicable for the analysis of copy number variants. Genomics variants are annotated with in-house and external medical genetics databases to facilitate evidence-based classification and interpretation.
CASE MANAGEMENT
ChromoSeek also features a smooth and integrated laboratory information management system, enabling management of entire workflows from sample receipt to experimentation, results, and reporting.
ChromoSeek curates genomic variants in a local in-house database to facilitate peer-to-peer visibility and the ease of reporting.
REPORTING
ChromoSeek features report generation and export of case details, classification, and interpretation of genomic variant results.