Scientists use advanced imaging to map uncharted area of genome

ScienceDaily | 9/3/2019 | Staff
bab_ohhbab_ohh (Posted by) Level 3
The study, published Sept. 3 in the journal Genome Research, was conducted by scientists at CU Anschutz led by Tamim Shaikh, PhD, the University of California San Francisco (UCSF) led by Pui-Yan Kwok MD, PhD and KU Leuven in Belgium led by Joris Vermeesch, PhD.

The research upends the view of many that the human genome was fully mapped in 2001 with the completion of the Human Genome Project.

Time - Gaps - Reference - Genome - Sequence

"We have realized over time that this is not entirely true, as there are numerous gaps that remain in the reference human genome sequence," said Shaikh, one of the senior authors of the study. Shaikh is a professor of pediatrics in the section of Genetics and Metabolism at University of Colorado School of Medicine. "These gaps are present in regions that are unmappable and often `invisible' to past and most current sequencing technologies."

The researchers focused on a region on Chromosome 22, known as 22q11. There were numerous gaps in the sequence of this chromosome due to unmappable genetic sequences known as low copy repeats or LCRs.

LCRs - Source - Instability - Chromosomes - Loss

LCRs are a significant source of genetic instability and can break chromosomes. That leads to a loss or gain of large pieces of DNA which can cause serious diseases. The loss of DNA in 22q11 leads to the 22q11 deletion syndrome resulting in symptoms which may include intellectual disability, dysmorphic features, heart defects, seizures, Autism spectrum disorders and schizophrenia.

Using two state-of-the-art genome...
(Excerpt) Read more at: ScienceDaily
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