Sequencing.com
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California, US
Sequencing.com provides end-to-end services for human germline 30x whole genome sequencing and DNA testing. Services include swab-based DNA collection kits, CLIA-certified/CAP-accredited laboratory processing, and advanced bioinformatics pipeline analysis
Optional services also include genetic data and genome interpretation, DNA reports, HIPAA-compliant and GDPR-compliant data storage, and genetic counseling.
1) 30x Whole Genome Sequencing + Bioinformatics Analysis
Obtains data on the entire genome including:
* SNVs/SNPs (single nucleotide variants)
* INDELs (insertion deletion variants)
* CNVs (copy number variations)
* SVs (structural variations)
* Mitochondrial heteroplasmy
* HLA typing
2) DNA microarray array genotyping + Bioinformatics Analysis
Obtains data on ~30 million SNPs and INDELs
Genetic data interpretation and reports are available for a wide range of categories and phenotypes including:
* ACMG 59
* Rare Disease Screening
* Carrier Screening
* Pharmacogenomics PGx
* Nutrigenomics
* Preventive Wellness
* Polygenic Risk Assessment
* Genetic Genealogy and Ancestry
Genotyping by Microarray end-to-end service including swab-based DNA collection kit, CLIA-certified and CAP-accredited laboratory processing, raw data delivery and optional bioinformatics processing, interpretation, DNA reports, and HIPAA-compliant, GDPR-compliant data storage.
Our genotyping service provides data on ~30 million SNPs and INDELs throughout the genome including autosomes, sex chromosomes, and the mitochondrial chromosome.
30x Whole Genome Sequencing end-to-end service includes buccal swab DNA collection kit, 30x whole genome sequencing in CLIA-certified and CAP-accredited laboratory, advanced bioinformatics processing and annotation, raw data delivery and optional data interpretation, DNA reports, HIPAA-compliant and GDPR-compliant data storage and genetic counseling services.
Obtains data on the entire genome including:
* SNVs/SNPs (single nucleotide variants)
* INDELs (insertion deletion variants)
* CNVs (copy number variations)
* SVs (structural variations)
* Mitochondrial heteroplasmy
* HLA typing
Data is aligned to GRCh38.p13 + rCRS MT and is provided in the following files and formats
* Paired FASTQ
* BAM
* Genome VCF (SNPs + INDELs)
* CNV VCF
* SV VCF
* MITO VCF
* HLA VCF
Optional interpretation and DNA reports are available as PDF reports. Data can also be aligned to GRCh37.
Interpretation and DNA reports include:
* Pharmacogenomics PGx
* ACMG 59
* Rare Disease Screening
* Preventive Wellness
* Breast Cancer
* Colon Cancer
* Alzheimer's
* Autoimmune Diseases
* Polygenic Risk Scores
* Nutrigenomics
* Fitness
* Genetic Genealogy
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