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Unlike commercial off-the-shelf exome enrichments, CeGaT Exome Xtra is not limited to the coding regions but comprises all disease-causing areas throughout the complete genome. Our Director Development Dr. Florian Battke explains in more detail what focused on when designing CeGaT Exome Xtra.nnhttps://www.cegat.de/ExomeXtrann#exome #diagnostics #bioinformatics #genetics #research #science
⏲ 84 sec ✓ 03-May-2021
Ambry Genetics
⏲ 53 minutes 39 seconds 👁 9.5K
Children's National Hospital
⏲ 1 minute 35 seconds 👁 3.3K
CeGaT aims to solve all genetically caused cases of disease to help physicians state a diagnosis. To pursue this goal, CeGaT incorporated its long-term expertise and latest scientific knowledge in an innovative diagnostic tool: CeGaT Exome Xtra is the most powerful genetic diagnostic option for patients with complex, unspecific, and rare diseases.nnCeGaT has been utilizing the power of genetic diagnostics for more than a decade as it introduced gene panels to clinical genetic diagnostics in 2010
⏲ 80 sec ✓ 08-Apr-2021
Ambry Genetics
⏲ 3 minutes 30 seconds 👁 22.4K
tgenvideo
⏲ 4 minutes 55 seconds 👁 3.1K
Fetal structural anomalies are found in up to 3% of all pregnancies following routine prenatal care ultrasound screening. Making a diagnosis is difficult due to the limited available phenotypic information, but is crucial to gain information about disease prognosis.nnThe analysis of the fetus and both parents (trio exome diagnostics) hereby allows the most efficient evaluation and increases the chance of identifying disease-causing variants. We have analyzed more than 500 prenatal cases and iden
⏲ 1 min 25 sec ✓ 30-Apr-2021
National Society of Genetic Counselors
⏲ 1 hour 1 minute 46 seconds 👁 1.4K
Shomu's Biology
⏲ 10 minutes 20 seconds 👁 28.6K
An exact diagnosis is the basis for an optimal treatment. Every human has thousands of genetic alterations and nearly all of them do not cause diseases. Finding the one genetic variant that causes a patient‘s disease is the wellknown “needle in a haystack problem”. This procedure requires a profound understanding of sequencing technology, molecular biology, and human genetics. Here is a case from our daily work where exome diagnostics saved a little girl’s life.nnhttps://www.cegat.de/Exo
⏲ 1 min 5 sec ✓ 21-May-2021
Nonsense Mutation Foundation
⏲ 5 minutes 2 seconds 👁 2.1K
Thermo Fisher Scientific
⏲ 3 minutes 57 seconds 👁 6.4K
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