>

We help people with rare disorders to improve the quality of genetic diagnostics in laboratories at the stage of bioinformatic processing of sequencing data, which, according to studies, has problems leading to incomplete identification of all true genomic variants.

We create an online tool that helps to search for clinical genetic tests (Whole Genome Sequencing / Whole Exome Sequencing / Gene panels / Others) based on different quality parameters, disease type, genes, price, test time, and others. This tool provides the ability for patients/doctors to choose labs/tests by measurable quality parameters beforehand testing. It can reduce costs of diagnostic path and path itself and lead to the detection of all true genetic events serving as the base of effective diagnostics.
We assess the quality of the process of detecting genomic variants carried out by other laboratories for the patient. We give control and understanding of the complete picture of what was provided to the patient in the laboratory and what needs to be done to improve the diagnosis. We provide an understanding of what improvements to request from the diagnostic lab in which the patient received his previous analysis results or in the new lab. We do this based on our report with the help of objective and measurable metrics derived from patient sequencing data.
We perform improved detection of genomic variants based on our pipeline applying special efforts to such causative to genetic diseases events as indels (> 50 bp), CNV (< 1 kb) and other variants witch are commonly hard detected by most popular programs with default parameters.
Check out our tool for test selection by quality and price:
Search test
Leave a request to assess the quality of the results of your tests or for detection based on our pipeline:
Request

We help people with rare disorders to improve the quality of genetic diagnostics in laboratories at the stage of bioinformatic processing of sequencing data, which, according to studies, has problems leading to incomplete identification of all true genomic variants.

We create an online tool that helps to search for clinical genetic tests (Whole Genome Sequencing / Whole Exome Sequencing / Gene panels / Others) based on different quality parameters, disease type, genes, price, test time, and others. This tool provides the ability for patients/doctors to choose labs/tests by measurable quality parameters beforehand testing. It can reduce costs of diagnostic path and path itself and lead to the detection of all true genetic events serving as the base of effective diagnostics.
We assess the quality of the process of detecting genomic variants carried out by other laboratories for the patient. We give control and understanding of the complete picture of what was provided to the patient in the laboratory and what needs to be done to improve the diagnosis. We provide an understanding of what improvements to request from the diagnostic lab in which the patient received his previous analysis results or in the new lab. We do this based on our report with the help of objective and measurable metrics derived from patient sequencing data.
We perform improved detection of genomic variants based on our pipeline applying special efforts to such causative to genetic diseases events as indels (> 50 bp), CNV (< 1 kb) and other variants witch are commonly hard detected by most popular programs with default parameters.
Check out our tool for test selection by quality and price:
Search test
Leave a request to assess the quality of the results of your tests or for detection based on our pipeline:
Request

We help people with rare disorders to improve the quality of genetic diagnostics in laboratories at the stage of bioinformatic processing of sequencing data, which, according to studies, has problems leading to incomplete identification of all true genomic variants.

We create an online tool that helps to search for clinical genetic tests (Whole Genome Sequencing / Whole Exome Sequencing / Gene panels / Others) based on different quality parameters, disease type, genes, price, test time, and others. This tool provides the ability for patients/doctors to choose labs/tests by measurable quality parameters beforehand testing. It can reduce costs of diagnostic path and path itself and lead to the detection of all true genetic events serving as the base of effective diagnostics.
We assess the quality of the process of detecting genomic variants carried out by other laboratories for the patient. We give control and understanding of the complete picture of what was provided to the patient in the laboratory and what needs to be done to improve the diagnosis. We provide an understanding of what improvements to request from the diagnostic lab in which the patient received his previous analysis results or in the new lab. We do this based on our report with the help of objective and measurable metrics derived from patient sequencing data.
We perform improved detection of genomic variants based on our pipeline applying special efforts to such causative to genetic diseases events as indels (> 50 bp), CNV (< 1 kb) and other variants witch are commonly hard detected by most popular programs with default parameters.
Check out our tool for test selection by quality and price:
Search test
Leave a request to assess the quality of the results of your tests or for detection based on our pipeline:
Request

/ WHAT IS THE PROBLEM WITH GENETIC DIAGNOSTICS BASED ON NGS METHODS

At present moment, diagnostic methods based on high throughput reading of genome(so-called - Next Generation Sequencing) received wide application in labs dealing with rare disorders. But NGS finds cause of disorder not for all patients and cases.
The purpose of the search for genetic tests are mutations(so-called genetic variants) that cause the manifestation of the disease, symptoms. (According to ACMG recommendations that implements in this field).
From 1 to 60% of patients find the causative genetic variants of their disease based on NGS methods. The percentage depends on the type of disease, symptoms. [link]

/ WHAT ROLE DOES THE BIOINFORMATIC DATA PROCESSING PLAY IN THE PROBLEMS OF GENETIC DIAGNOSTIC

The basis of NGS diagnostics is the processing of DNA sequence data to identify mutations that cause the disease.
Data about DNA sequence takes from a special sequencing machine.
DNA sequence data handled with special programs to detect mutations in DNA. Most of these programs are open-sourced and developed by different research groups all over the world. No one program can detect all existing mutations in patients samples alone. Pipeline - is the sequence of these programs and their parameters. Every program has its advantages and disadvantages. Percent of detected true genetic mutations depends on the pipeline.
Proper pickup of programs and their settings can lead to the improvement of the detection of mutations, which previously was not detected. For example for up to 15% of patients from a cohort of 156 previously conducted tests with no diagnosis.[link]

/ Why pipline quality assessment is important

/ What solutions does we offer

Tool for searching NGS tests in diagnostic laboratories by time, price and different quality parameters.

14

Clinical Labs from Europe

5162

Tests

3664

NGS Panels

967

Categories of diseases in search filter

WES WGS Panels Sanger MLPA PCR Microarray Other

Tests

Search by NGS sequencing machine

On the basis of genetic test reside machine that read DNA. The quality of the test depends on the model of the sequencing machine. We created a rating for decision making based on the quality of sequencing instruments that widely used in NGS genetic tests. This rating based on data provided by the manufacturer and independent studies. We sort these instruments in the order of decreasing of quality of tests performed on them. 1 is the best quality, 6 is low.
  • 1.| Illumina MiSeq
  • 2.| Illumina NovaSeq 6000
  • 3.| Illumina HiSeq2500
  • 4.| Illumina NextSeq 500
  • 5.| Illumina HiSeqX
  • 6.| Illumina HiSeq2000

Search by coverage

NGS methods consist of reading sample DNA with short segments(reads). Cutting DNA for reads perform during sample preparation. In order to provide magnification of signal for sequencing instrument sample DNA copied and randomly cut for reading many times. Then this reads align on reference human DNA. Coverage is the number of times each nucleotide(base pair) vertically covered by reads. The quality of tests depends on coverage. Laboratories usually publish 3 metrics about their test coverage:
Average absolute coverage - most frequent value of coverage across all sequenced nucleotides.
The bigger value, the better quality of test.
% of covered nucleotides - percent of nucleotides from the total length of sequenced nucleotides covered at least a certain threshold (>X times).
The bigger value, the better quality of test.
Coverage threshold - this or greater coverage has a certain % of sequenced nucleotides.
The bigger value, the better quality of test.

Search by type of disorders, body systems.

967 Categories of diseases in search tree filter in total.
41 root categories.

Search by list of genes.

Search by test types.

Panel, WES, WGS, Sanger, others.

By CNV option.

Its better if test have CNV detection.

Ready to get started?

Improve your diagnostic. Find appropriate test. Totally free.
We provide an independent assessment of the quality of data processing (of pipeline) previously provided by a laboratory for a particular patient.
We estimate the quality of data obtained directly at the exit from the sequencing machine,i.e. initial quality.
We estimate and compare the initial quality with the quality of the whole data processing(of pipeline).
A comparison between initial and final quality provides decisions about what needs to be improved in data processing to detect all true genomic variants(mutations).
We provide estimation based on metrics that reflect quality from different sides and gives the full picture of what has been done. Metrics:
-Q, nucleotide quality
-Read length
-Coverage
-Nucleotide error rate, %
-Number of nucleotides in the variant allele
-Mapped reads, %, absolute number
We provide to patient/doctor with all necessary explanations in our report. We are grateful to answer questions and explain the information.
Based on estimations mentioned above, improvements in the detection of variants that need to be done can be performed with our pipeline or with any other pipeline in the appropriate lab, that patients will choose.
From a technical point of view, the accuracy of the detection of variants depends on the quality of the stages of data processing.
Detection of variants based on our pipeline
We perform automatic selection of appropriate bioinformatics tools and their parameters for improvement of main pipeline stages:
- reads nucleotides error correction,
- alignment,
- base quality score recalibration,
- variant calling,
- filtration between True variants and false variants.
These selection performs from a wide space of possible combinations and choose a better combination of software and its parameters for particular patient data.
We perform detection of such genetic events as: snp, indel, cnv, applying special efforts to commonly bad detected events like indels for more than 20 bp of length, and also for CNV of less than 1 kb and all other sizes.
All variants that we detect can be confirmed with methods routinely used in labs. Patients can choose lab by themselves or we can help with this selection. With the input list of detected variants, any lab can conduct clinical interpretation of new findings.