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Applying math to biology: Software identifies disease-causing mutations in undiagnosed illnesses

Posted: Published on April 22nd, 2014

PUBLIC RELEASE DATE: 22-Apr-2014 Contact: Phil Sahm phil.sahm@hsc.utah.edu 801-581-2517 University of Utah Health Sciences (SALT LAKE CITY)A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics. The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families. Sequencing the genomes of individuals or small families often produces false predictions of mutations that cause diseases. But the study, conducted through the new USTAR Center for Genetic Discovery at the U of U, shows that Phevor's unique approach allows it to identify disease-causing genes more precisely than other computational tools. Mark Yandell, Ph.D, professor of human genetics, led the research. He was joined by co-authors Martin Reese, Ph.D., of Omicia Inc., an Oakland, Calif., genome interpretation software company, Stephen L. Guthery, M.D., professor of pediatrics who saw two of the cases in clinic, a colleague at the MD Anderson Cancer Center in … Continue reading

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Routine blood glucose measurements can accurately estimate hemoglobin A1c in diabetes

Posted: Published on April 22nd, 2014

PUBLIC RELEASE DATE: 22-Apr-2014 Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News New Rochelle, NY, April 22, 2014Hemoglobin A1c is the standard measurement for assessing glycemic control over time in people with diabetes. Blood levels of A1c are typically measured every few months in a laboratory, but now researchers have developed a data-based model that accurately estimates A1c using self-monitored blood glucose (SMBG) readings, as described in Diabetes Technology & Therapeutics (DTT), a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the DTT website at http://www.liebertpub.com/dtt. In "Accuracy and Robustness of Dynamical Tracking of Average Glycemia (A1c) to Provide Real-Time Estimation of Hemoglobin A1c Using Routine Self-Monitored Blood Glucose Data," authors Boris Kovatchev, PhD, Frank Flacke, PhD, Jochen Sieber, MD, and Marc Breton, PhD present the computer algorithm they developed based on a training data set drawn from 379 subjects and then evaluated for accuracy on an independent test data set. The authors propose that estimation of real-time A1c could increase individuals' motivation to improve diabetes control. "Patients are used to an A1c result from their doctor visits, and this study highlights simple estimated A1c values from SMBG data," says Satish … Continue reading

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Ricky Ashby Microbiology Podcast – Video

Posted: Published on April 22nd, 2014

Ricky Ashby Microbiology Podcast This video is an assignment for Environmental Microbiology. It is a mock lecture on Gene Therapy and the utilization of viruses found in the environment as v... By: Frederick Ashby … Continue reading

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Dr.Abbas 17 [DNA : Post transcriptional processing of mRNA & Regulation of gene expression] – Video

Posted: Published on April 22nd, 2014

Dr.Abbas 17 [DNA : Post transcriptional processing of mRNA Regulation of gene expression] Post transcriptional processing of mRNA - Regulation of gene expression in prokaryotes - Regulation of gene expression in eukaryotes( Gene alteration) ** ... By: Forsan El Kasr … Continue reading

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William Shih (Harvard) Part 3: DNA-Nanostructure Tools – Video

Posted: Published on April 22nd, 2014

William Shih (Harvard) Part 3: DNA-Nanostructure Tools http://www.iBiology.org Talk Overview: Shih describes how DNA can be used as a building material to construct nanoscale objects. A long strand of DNA can be ... By: iBiology … Continue reading

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Genetica elemental 1: estructura DNA – Video

Posted: Published on April 22nd, 2014

Genetica elemental 1: estructura DNA By: Pablo Cuesta de Diego … Continue reading

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Ana & the DNA’s – 5 Minutos (Beusselsession) – Video

Posted: Published on April 22nd, 2014

Ana the DNA's - 5 Minutos (Beusselsession) Beusselsession http://www.anaimusic.com http://www.facebook.com/anai.music anai.bandcamp.com. By: anai.music … Continue reading

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WNB LINKS! Only | KOREA NUKE; POWDER BOOZE; CLIMATE LASER; DNA GAMBLING; FINGERPRINT FARCE – Video

Posted: Published on April 22nd, 2014

WNB LINKS! Only | KOREA NUKE; POWDER BOOZE; CLIMATE LASER; DNA GAMBLING; FINGERPRINT FARCE http://www.harvestarmy.org - - SUBSCRIBE FOR PREDICTIONS THAT MAY AFFECT YOU - - DIGITIAL EYES READS MIND http://news.yahoo.com/japans-digital-eyes-show-emot... By: HarvestArmy … Continue reading

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Broward College Chemistry 1032 – Dr. Betts – Chapter 10 Lecture – Video

Posted: Published on April 22nd, 2014

Broward College Chemistry 1032 - Dr. Betts - Chapter 10 Lecture By: BrowardCollege NorthCampus … Continue reading

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AQA Unit 2 Chemistry. Acids, bases and salts Lesson 2: Acid + Metal – Video

Posted: Published on April 22nd, 2014

AQA Unit 2 Chemistry. Acids, bases and salts Lesson 2: Acid + Metal Free GCSE and A Level video lessons. By: Freesciencelessons … Continue reading

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