BIG DATA: How biological data science can improve our health, foods & energy - June 18, 2014

TL;DR

Genomics is transforming biology with breakthroughs in health and agriculture.

Transcript

hello can everyone hear okay great so thanks very much for introduction and thanks very much to all of you for coming out tonight so I got a I'm a computer scientist by training as you just heard and in fact my first job out of college I was working at a security company doing a code-breaking type thing so we were trying to invent and sometimes bre... Read More

Key Insights

• Genomics is rapidly advancing due to decreased sequencing costs and increased data capacity, enabling new research possibilities in health and agriculture.
• DNA sequencing technologies have evolved from analog to digital, drastically reducing costs from $100 million to about $1,000 per human genome.
• The Human Genome Project marked a significant milestone, but recent advancements have expanded capabilities to sequence thousands of genomes, aiding in disease research.
• Genomics is not just about human health; it's also crucial for understanding plant and microbial genetics, which can lead to more robust crops and biofuels.
• Data science is integral to genomics, requiring interdisciplinary teams with expertise in computing, mathematics, and biology to handle the massive data volumes.
• Ethical considerations are paramount in genomics, especially concerning privacy and data security, as genetic information is highly personal and sensitive.
• Technological advances, such as the development of portable sequencing devices, are democratizing access to genomics, potentially transforming fields like public health and agriculture.
• The future of genomics includes widespread deployment of sequencing technologies, potentially reaching an exabyte of data capacity by 2018, with applications in personalized medicine and global health monitoring.

Questions & Answers

Q: How has the cost of genome sequencing changed over time?

The cost of genome sequencing has dramatically decreased from approximately $100 million for a single human genome in the early 2000s to around $1,000 today. This reduction is due to advancements in sequencing technologies, transitioning from analog methods to high-throughput digital processes, particularly with the introduction of Illumina's sequencing systems.

Q: What role does data science play in genomics?

Data science is critical in genomics due to the vast amounts of data generated by sequencing technologies. It involves interdisciplinary teams with expertise in computing, mathematics, and biology to analyze and interpret genetic data. These teams develop software and computational systems to handle data, identify patterns, and draw meaningful conclusions about genetic variations and their implications for health and agriculture.

Q: What are some ethical considerations in genomics?

Ethical considerations in genomics primarily revolve around privacy and data security. Genetic information is highly personal and sensitive, and there are significant concerns about how it is stored, shared, and used. Ensuring that genetic data does not lead to discrimination or unauthorized access is crucial. Researchers and institutions must implement strong safeguards to protect individuals' genetic privacy while balancing the benefits of genomic research.

Q: How are portable sequencing devices changing the field of genomics?

Portable sequencing devices, like the Oxford nanopore's minION, are revolutionizing genomics by making sequencing more accessible and affordable. These devices, which fit in the palm of a hand and cost about $1,000, allow for on-the-go sequencing in various settings, including schools, research labs, and public health monitoring. This democratization of sequencing technology could lead to significant advancements in personalized medicine and global health surveillance.

Q: What is the significance of the Human Genome Project?

The Human Genome Project was a landmark achievement in genomics, providing the first complete sequence of the human genome. It laid the foundation for modern genomics by enabling researchers to identify genetic variations linked to diseases. The project highlighted the complexity of the human genome and spurred the development of new technologies and methodologies, leading to the current era of high-throughput sequencing and personalized medicine.

Q: How is genomics applied in agriculture?

In agriculture, genomics is used to study plant and microbial genetics, leading to the development of more robust crops and biofuels. By understanding the genetic makeup of plants and their interactions with microbes, researchers can enhance crop resilience, improve yield, and optimize biofuel production. Genomics also aids in breeding programs by identifying desirable traits and accelerating the development of improved plant varieties.

Q: What are de novo mutations, and how do they relate to autism?

De novo mutations are genetic alterations that arise spontaneously and are not inherited from parents. In autism research, these mutations are of interest because they occur more frequently in children with autism compared to their non-autistic siblings. Studies have shown that de novo mutations can disrupt genes critical for brain development, providing insights into the genetic basis of autism spectrum disorders and highlighting the importance of genetic research in understanding complex diseases.

Q: What future trends are expected in genomics data capacity?

Genomics data capacity is expected to grow exponentially, with projections indicating a shift from petabytes to exabytes and potentially zettabytes of data within the next decade. This growth is driven by advancements in sequencing technologies and the increasing number of sequencing projects across the globe. The expanding data capacity will enable more comprehensive studies of genetic variations, disease mechanisms, and evolutionary processes, ultimately advancing personalized medicine and global health initiatives.

Summary & Key Takeaways

• Genomics has undergone a dramatic transformation, with sequencing costs dropping from $100 million to $1,000 per genome, enabling extensive research in health and agriculture. This evolution from analog to digital sequencing has opened new frontiers in understanding genetic diseases and developing biofuels.

• The Human Genome Project was just the beginning; now, genomics research spans diverse species and applications. Projects like the Cancer Genome Atlas and the Human Microbiome Project illustrate the breadth of current research, from disease mechanisms to evolutionary biology.

• With the proliferation of genomic data, data science plays a crucial role. Interdisciplinary teams use advanced computing and statistical methods to analyze genetic data, uncovering insights into diseases like autism and cancer while addressing ethical concerns around data privacy and security.