THE MIGA LAB
Comprehensive studies of genetic structure and function can no longer overlook the most repeat-rich and largely unexplored parts of our genome. These uncharted sequences contain genes, are highly variable between individuals, and are known to be associated with a wide range of disease phenotypes. We are entering an exciting and pivotal point in genomics, where emerging technologies are capable of generating complete, linear chromosome assemblies. As a result, all future studies in basic and clinical genetics will need to include these previously ignored regions.
The Miga Lab at UCSC focuses on genomic and epigenetic structure within human centromeres and constitutive heterochromatin, which are now emerging to the forefront of genomics. We’re particularly interested in understanding how satellite DNAs, or the tandem repeats in these regions of the genome, are epigenetically regulated, change over time, and how this new variation contributes to disease
Our Commitment to Diversity
My lab welcomes students, postdocs and visiting scholars regardless race, religion, gender identification, sexual orientation, age, or disability status. The more reflective of society’s diversity the lab is, the better we are. It is through diverse perspectives and abilities that we see all possible answers to a problem.
In the news
Visualization of sections of the human genome sequence at the Wellcome Sanger Institute near Cambridge, UK.Credit: James King-Holmes/Science Photo Library
A complete human genome sequence is close: how scientists filled in the gaps
“Now, researchers in the Telomere-to-Telomere (T2T) Consortium, an international collaboration that comprises around 30 institutions, have filled in those gaps. In a 27 May preprint entitled ‘The complete sequence of a human genome’, genomics researcher Karen Miga at the University of California, Santa Cruz, and her colleagues report that they’ve sequenced the remainder, in the process discovering about 115 new genes that code for proteins, for a total of 19,969.”
Telomere-To-Telomere Team Assembles Complete Human Genome En Route to Reference Pangenome
"This is the last base camp before the summit," said Adam Phillippy, a bioinformatician at the National Human Genome Research Institute and a co-chair of T2T. "With the Human Genome Project (HGP), while it created billion-dollar industries and unlocked huge discoveries, there was always a nagging feeling in the back of my head of 'Gee, it's not really done,'" he said.
He hopes the genomics community will see the T2T-CHM13 assembly as an achievement in itself and use it as a linear reference genome. "All comparisons show that this genome is much more representative than GRCh38," he said. "It's much more human."
Building A Telomere-to-Telomere Human Pangenome Reference
Our current version of the human reference genome is built primarily from one person. “This does not adequately represent genetic diversity in the human population,” Karen Miga told the virtual audience at this week’s AGBT General Meeting. “This is true of most of our genomic repositories that we’ve built and resources and tools we’ve built,” she continued. “We’re seeing a failing in recognizing the full and broad representation of sequence diversity in the human population.”
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UCSC Genomics Institute
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