Processing
xGen™ Inherited Diseases Hybridization Panel
Targeted sequencing research on genes associated with inherited diseases
The xGen Inherited Diseases Hyb Panel enables research involving deeper sequencing of genomic regions containing genes and SNPs associated with inherited diseases. The gene list is based on the HGMD® repository of known inherited disease-causing mutations.
xGen NGS—made for inherited diseases research.
Ordering
- Obtain high coverage uniformity across all targets
- Identify variations reliably, with increased depth of coverage
- Expect fast turnaround time with easy online ordering and next-day shipping
For the xGen Hybridization and Wash Kit, xGen Universal Blockers, xGen Library Amplification Primer Mix, and/or xGen Human Cot DNA, please visit the xGen Hybridization Capture Core Reagents page.
Product details
Whole exome sequencing (WES) has traditionally been the standard
method for research detecting a wide variety of inherited diseases. Now, IDT provides focused sequencing of specific genomic regions of interest to obtain deeper coverage for easier, more efficient, and identification of mutations in research samples.
The xGen Inherited Diseases Hyb Panel targets disease-causing mutations as defined by The Human Gene Mutation Database (HGMD®) to combine the ease of WES with the low per sample cost of targeted panels.
The xGen Inherited Diseases Panel consists of 116,355 xGen Hyb Probes—spanning approximately 11.1 Mb of the human genome—and are designed specifically for research using targeted enrichment of genes and SNPs associated with the inherited diseases listed below.
xGen Hyb Probes are individually-synthesized and quality-controlled 120 mer oligonucleotides, bearing a 5′ biotin modification and manufactured using our proprietary Ultramer™ synthesis technology.
Targeted disorders of the xGen Inherited Diseases Hyb Panel
- Autism spectrum disorders
- Cardiomyopathy
- Ciliopathies
- Congenital disorders of glycosylation (CDGs)
- Congenital myasthenic syndromes
- Epilepsy and seizure disorders
- Eye disorders
- Glycogen storage disorders
- Hearing loss
- Hereditary cancer syndrome
- Hereditary periodic fever syndromes
- Inflammatory bowel disease
- Lysosomal storage disorders
- Maturity onset diabetes of the young
- Multiple epiphyseal dysplasia
- Neuromuscular disorders
- Noonan syndrome and related disorders
- Peroxisome biogenesis disorders, Zellweger syndrome spectrum disorders
- Short stature panel
- Skeletal dysplasia
- X-linked intellectual disability
Product data
Uniformity of coverage for xGen Inherited Diseases Hyb Panel
Figure 1. An example of high coverage uniformity obtained with xGen Inherited Diseases Hyb Panel. Greater than 0.2X mean coverage is observed for >99% of targets. Illumina TruSeq® HT libraries (n=8) were enriched using
the xGen Inherited Diseases Hyb Panel and sequenced on a NextSeq® 550 system using 2 x 150 paired-end reads. Each sample was sub-sampled to 17.5M total reads.
Complete coverage across all targets
Figure 2. An example of deep coverage of targeted regions using xGen Inherited Diseases Hyb Panel. Eight genomic DNA libraries were enriched using the xGen Inherited Diseases Hyb Panel and sequenced on a NextSeq 550 system using 2 x 150 paired-end reads. Total reads for each sample were sub-sampled to 17.5M total reads. In all samples, there was >1X coverage for 99.4% of targets and >30X coverage for 98.8% of targets.
Consistent data from one lot to the next
Figure 3. An example of lot-to-lot consistency obtained with xGen Inherited Diseases Hyb Panel. Genomic DNA libraries were enriched with two lots of the xGen Inherited Diseases Hyb Panel (n=8 for each lot). The enriched samples were sequenced on the NextSeq 550 sequencing platform using 2 x150 paired-end reads. All samples were sub-sampled to a level of 17.5M total reads. The probe-by-probe target coverage was averaged for eight replicate samples for each lot of the xGen Inherited Diseases Hyb Panel. A comparison of probe-by-probe target coverage between two lots showed excellent reproducibility, with an R2 value of 0.9786.
Resources
TruSeq® is a registered trademark of Illumina, Inc., used with permission. All rights reserved.
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