The Bina Bioinformatics team is excited to tell you about our latest research in genetic variation analysis at ISMB 2016 this upcoming weekend in Orlando, Florida. Our Bioinformatics Scientist, Mohammad Sahraeian, will be presenting several significant enhancements made to a previously published, integrative structural variation (SV) caller, MetaSV. Recent enhancements have shown improvements in accuracy and speed at detecting more structural variations types, such as insertions, deletions, inversions and duplications, over the original tool. To learn more about this work, be sure to bookmark and check out the following poster presentation on Sunday afternoon:
Roche Sequencing Solutions is excited to welcome you to the Festival of Genomics at the Boston Convention Center from June 27th - 29th. Come by booth #232 to learn what we have in store for an end-to-end NGS workflow, from sample prep to informatics analysis.
Time & Date:
REGISTER TO JOIN US on Thursday June 16, 2016, 10 am PT // 1 pm ET.
SOMATICSEQ: AN ENSEMBLE APPROACH WITH MACHINE LEARNING TO DETECT SOMATIC MUTATION DETECTION
Accurate detection of somatic mutations has proven to be challenging in cancer NGS analysis, due to tumor heterogeneity and cross-contamination between tumor and matched normal samples. Oftentimes, a somatic caller that performs well for one tumor may not for another.
In the keynote presentation of this month’s Bio-IT World Conference and Expo, Dr. Heidi Rehm, Chief Laboratory Director at Partners Healthcare Personalized Medicine, emphasized the need to publicly share genetic variant information to advance patient care. She candidly told the story where her lab at Partners Healthcare reported the result of a genetic test for a fetus at risk for Noonan syndrome as “pathogenic”, only to find out later that there was conflicting evidence and the gene mutation should not be ruled as pathogenic in certain ethnic groups. When she contacted the physician to present the new finding, she was told that the parents had terminated the pregnancy.
Pancreatic Neuroendocrine Tumors (PNETs) are a rare but clinically important form of cancer. Because many PNETs grow silently and are therefore frequently diagnosed at a late stage, approximately 65% of patients present with unresectable or metastatic disease. As a result, these patients have a poor prognosis and a median survival time of 24 months with limited treatment options.
Advancements in next-generation sequencing (NGS) technologies have produced massive number of short read sequences, making secondary analysis a challenging big data problem. In this seminar presented at Molecular Tri-Con 2016, Bina’s Senior Director of Bioinformatics, Hugo Lam, shared current approaches at Bina in assessing and improving the accuracy of NGS algorithms. Specifically, he touched on how Bina's research expanded the benchmarking toolset through the availability of a better gold set and a variant simulation and validation framework.
The much anticipated AACR annual meeting aims to bring together basic, translational and clinical researchers in the field of cancer. To take place April 16-20 in New Orleans, Roche Diagnostics welcomes you to discover an array of cutting-edge technologies and to share your innovations in cancer research with us at booth #922.
Bina is proud to be sponsoring a free luncheon presentation next week with the Stanford Center for Genomics and Personalized Medicine (SCGPM), where we will present our latest scientific advancements in next-generation sequencing analysis. Register and come hungry!
TIME AND PLACE:
Tuesday, April 19, 2016 from 12:00 PM to 1:00 PM. James H. Clark Center Room S360
With Bio-IT World Conference & Expo approaching, one of the traditions that attendees and sponsors look forward to is the award ceremony that recognizes outstanding technology innovators and research collaborations. Last year Bina beat out numerous contenders and was crowned winner of the Best of Show Award for the Genetic Analysis category. This year we have our eye on the prize for the Best Practices Award, and are honored to be amongst the 17 finalists that were recently selected. Winners will be announced during the Bio-IT plenary session on April 6 at 9:30 am.
Looks like the annual Bio-IT World Conference & Expo may arrive just before the snow melts! To take place at the Seaport World Trade Center in Boston from April 5-7, the event is packed with 13 parallel tracks and 16 workshops with topics on trends in big data, IT informatics, cloud computing, security and privacy for biomedical research.