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Artificial intelligence is increasingly being used in various aspects of our lives, including biology, the study of life itself. AI can sift through vast amounts of genomic data to identify potential therapeutic targets, but the way AI models come to their conclusions is often unclear. A new tool called SQUID (Surrogate Quantitative Interpretability for Deepnets) has been developed by Cold Spring Harbor Laboratory scientists to help interpret how AI models analyze the genome. SQUID is more consistent, reduces background noise, and can lead to more accurate predictions about the effects of genetic mutations.

SQUID’s effectiveness lies in its specialized training, which leverages decades of quantitative genetics knowledge to help understand what deep neural networks are learning. It works by generating a library of over 100,000 variant DNA sequences and analyzing the mutations and their effects using a program called MAVE-NN (Multiplex Assays of Variant Effects Neural Network). This allows scientists to perform thousands of virtual experiments simultaneously, helping them to uncover the algorithms behind AI’s accurate predictions. While virtual experiments cannot replace actual laboratory experiments, they can provide valuable insights and help scientists form hypotheses for further study.

The human genome remains a complex and challenging terrain to navigate, despite being mapped. SQUID has the potential to help biologists navigate this field more effectively and bring them closer to understanding the true medical implications of their findings. As more AI models are developed and deployed in biological research, tools like SQUID could help scientists identify and choose the most suitable models for their specialized needs. By providing a clearer understanding of how AI models analyze genomic data, SQUID may help advance research and discovery in biology and personalized medicine.

In conclusion, AI is increasingly being used in biology to analyze genomic data and identify potential therapeutic targets. However, the black box nature of AI models makes it challenging to understand how they reach their conclusions. SQUID is a new computational tool developed by Cold Spring Harbor Laboratory scientists to help interpret how AI models analyze the genome. By leveraging quantitative genetics knowledge and conducting virtual experiments, SQUID can provide valuable insights into the algorithms behind AI’s predictions and help scientists form hypotheses for further study.

The specialized training of SQUID sets it apart from other analysis tools, making it more consistent, reducing background noise, and leading to more accurate predictions about the effects of genetic mutations. By helping scientists navigate the complex terrain of the human genome, SQUID has the potential to advance research and discovery in biology and personalized medicine. As more AI models are developed and deployed in biological research, tools like SQUID could play a crucial role in helping scientists select the best models for their specialized needs and ultimately improve patient outcomes.

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