Big Data in genetics: reaching diagnosis through heaps of data
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Image: Two drops of water on a screen that shows a pattern of colored bars; Copyright: ktsimage

Topic of the Month August 2022

Big Data in genetics: reaching diagnosis through heaps of data

Most laboratory tests only produce small amounts of data that are already sufficient for successful diagnosis. It becomes more difficult with genetic questions: whether it is about a genetic disease or the properties of tumors, there are always large amounts of data that must be considered. Both research and medicine need help to identify the connections and patterns in the data to find a diagnosis. This is where machine learning comes in.

Big Data: Helper and game changer in laboratory medicine and genetics
Image: Gloved hand holds a cell culturing vessel in front of a screen with the depiction of a genetic analysis; Copyright: westend61
Big data, the use of large volumes of data in diagnostics and research, is giving medical science a powerful boost. Especially in laboratory medicine, big data can provide unprecedented support as doctors must consider a multitude of data and parameters to facilitate accurate medical decision-making.
Read the article about Big Data in genetics

MoSBi: Algorithm identifies disease subtypes
Image: Two men are sitting in front of a laptop computer and are talking about an image on the screen - Josch Konstantin Pauling, Nikolai Köhler; Copytight: LipiTUM
Doctors have always used symptoms, imaging, and laboratory data to define and diagnose diseases, but at times it is simply not enough: while patients may have the same illness, it may exhibit different changes at the molecular level. A team from the Technical University of Munich has developed the so-called MoSBi algorithm and makes it available to researchers to identify molecular differences.
Read the interview with Dr. Josch Konstantin Pauling and Tim Rose here

Project "ikarus" provides new insights for cancer research
Image: Two male researchers analyzing data sets on a computer screen; Copyright: Felix Petermann | MDC

Artificial intelligence (AI) is about to become a game changer, especially in diagnostics. However, there are still limits to the use of AI. Dr. Altuna Akalin had to recognize this as well. The head of the Max Delbrück Center's (MDC) technology platform for "Bioinformatics and Omics Data Science" developed "ikarus" with his team.
Read the interview with Dr. Altuna Akalin here

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