Exponite group sequencing experiment

Excromon group sequencing experiment

Exisseon (exon) is a part of the eukaryotic biological gene, which comprises information required for synthetic proteins. All exons are called u0026 ldquo; exon group u0026 rdquo; (exome). Examples Sequencing refers to genomic analysis methods of high-throughput sequencing using sequence capture techniques to capture and enriched high-throughput sequencing. Since the exon group sequencing only the DNA of the exon region (for example, the human exon group only accounts for about 1% of the length of the human genome, but the disease currently caused by DNA variation is estimated to be more than 85% from The variation of the exon group region is much easier, economical, efficient, and its target area coverage is also higher than the total genome sequence sequence. It is easy to detect.

Currently, exon sequencing has been successfully applied in Mendel syndrome such as Miller syndrome, song and katrophic syndrome, heavy-duty craniocerepum. . There are other cancers and complex diseases, also observed highly related mutations.

analysis Item

Standard analysis project

[ 123] 1. Data quality control and screening

2. Compared with the reference genome, obtain sequencing depth READS distribution and cover statistics 3. SNP, Small Indel detection

[ 123]

Analysis item [

Credit point screening;

Cell mutant site screening (cancer) site annotation (adjacent gene areaFunction notes, adjacent domain annotations, neighborhood regulation area annotation, variation type of internal site in coding zone; variation site conservative detection, variation site risk assessment)

[123

Variation site area distribution (diverseThis) High frequency variation site / gene statistics (multi-sample)

GWAS analysis (large sample amount)