Month: June 2020
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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Finding a gene in the stacks Genetic disease diagnosis can be time-consuming because of the extensive literature searching required. To speed this process, Birgmeier et al. developed AMELIE (Automatic Mendelian Literature Evaluation), an end-to-end machine learning approach with web interface that finds relevant literature supporting the disease causality of genetic variants and their association with different…
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How DNA revealed the woolly mammoth’s fate – and what it teaches us today
DNA evidence has revealed why woolly mammoths died out on St Paul Island, Alaska. World Economic Forum | 24 Jun 2020 | Kate Whiting Dr Beth Shapiro is a paleo-geneticist who uses genomics techniques to understand how species became extinct to help conservation efforts today. By extracting DNA from a frozen lake on an Alaskan…
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Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer
Highlights This large analysis identified ancestry correlates in cancer Ancestry-associated artifacts and confounders were identified Ancestry effects are profoundly tissue specific Rates of FBXW7, VHL, and PBRM1 mutations and immune activity vary by ancestry Summary We evaluated ancestry effects on mutation rates, DNA methylation, and mRNA and miRNA expression among 10,678 patients across 33 cancer…
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Solved: For 43 years, she was ‘Precious’ Jane Doe
She was murdered near Everett in 1977. Years of detective work finally revealed her name: Lisa Roberts, 17.
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NHGRI commemorates 20th anniversary of White House event announcing draft human genome sequence
Prabarna Ganguly, Ph.D. | NHGRI News | June 26, 2020 The signature goal of the Human Genome Project (HGP) was to generate a sequence of the three billion letters (A, C, G and T) in the human DNA instruction book. The multidisciplinary, international consortium worked tirelessly towards this goal, recognizing the incredible resource it would…
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Angela Brooks Named Director, Diversity, for the Genomics Institute
Dr. Brooks has enhanced diversity and inclusion in STEM by creating new training opportunities for students from underrepresented groups UC Santa Cruz Genomics Institute | June 22, 2020 As a splicing specialist, Angela Brooks’s goal is to identify weaknesses in the cancer genome. As a research community member, Brooks’s goals include building strength through diversity.…
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Gavilan College student wins Karl S. Pister Scholarship to UCSC
Mario Escudero plans to study medicine Jan Bernstein Chargin | Patch | Jun 18, 2020 Mario Escudero dealt with death in the family, survived his kids’ teen years, worked full time and explored multiple educational programs and leadership paths on his way to receiving the UCSC Karl S. Pister Leadership Opportunity Award. “He has been…
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Domain-Specific Hardware Accelerators Communications of the ACM
From the simple embedded processor in your washing machine to powerful processors in data center servers, most computing today takes place on general-purpose programmable processors or CPUs. CPUs are attractive because they are easy to program and because large code bases exist for them. The programmability of CPUs stems from their execution of sequences of…
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The Human Genome Project in 2020 Hindsight
Mark Wilson / Newsmakers/Getty Images Two decades after the working draft of the human genome was completed, it is clearer than ever that analysis of the text is just getting started Julianna LeMieux, PhD | GEN | June 5, 2020 On June 26, 2000, President Bill Clinton stood between J. Craig Venter (left) and Francis…
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Statement on Racial Justice
June 10, 2020 | UC Santa Cruz Genomics Institute We are writing to express our outrage and sorrow at the recent murders of George Floyd, Breonna Taylor, and Ahmaud Arbery, and to condemn the systemic racism that is at the root of ongoing violence against Black people in this country. We stand firmly against violence…
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Campus, Santa Cruz Community Health unite to test underserved community members
June 04, 2020 | UCSC | Scott Hernandez-Jason Compelled by values of social justice and equity, UC Santa Cruz and Santa Cruz Community Health, a nonprofit primary care provider for low-income patients, are working together to test the area’s underserved residents for COVID-19. As news outlets published stories about celebrities and athletes unnecessarily getting tested for…
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UC COVID-19 seed funding supports UCSC coronavirus genome browser
June 05, 2020 | Tim Stephens | UCSC The UC Santa Cruz Genomics Institute’s Genome Browser Team has received seed funding from the UC Office of the President for its work on the UCSC Genome Browser for SARS-CoV-2, which supports biomedical research aimed at developing therapeutics and a vaccine for COVID-19. The team fast-tracked efforts…