There are billions of genetic variants in humans

How to we find the ones relevant for disease?

Next Generation Sequencing - What is It (all about) ?

Compiling first human genome sequence took 13 years, billions of $ and millions of DNA sequencing experiments. Today, NGS puts these numbers at a few days, 1000$ and one experiment.

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What Are The Applications Of NGS In Genetics ?

Human Genetics aims to uncover which genetic variations cause or contribute to human diseases, regardless if rare or common. NGS has greatly changed the way we can adress those questions.

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How Is The Relevant Info Extracted From NGS Data ?

NGS data can come from many types of experiments (often not even from DNA), and technically diverse NGS sequencing machines. This necessitates a multitude of different approaches how to analyse the data.

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Hi There! Guess what, this is my homepage.

Despite being a Biologist by training, I specialized early on Human Genetics and Cancer Genetics. Over time, I morphed into sort of a specialist concerning many aspects of Next Generation Sequencing (NGS|HTS|MPS) technology and the multitude facets of data analysis that comes with it.
Together with my background in genetics, I currently apply my skills at the Institute of Human Genetics @ UKD in Düsseldorf, Germany to identify the genetic variations with an actual pathogenic relevance in rare diseases and various cancers. To put without too much tech gibberish, I am looking for ways to find the needles in that vast haystack of human genetic variety that is much greater and works on many more levels than anticipated until quite recently.