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Genomics is the study of the complete genetic material, including genes and their functions, of an organism.
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Researchers discover hotspot L205R mutation is closely associated with adrenocortical tumors

Researchers discover hotspot L205R mutation is closely associated with adrenocortical tumors

Chinese researchers from Rui-Jin Hospital, Shanghai Jiao-Tong University School of Medicine, BGI, and other institutions have discovered that the activating hotspot L205R mutation in PRKACA gene was closely associated with adrenocortical tumors (ACTs), and the relationship of recurrently mutated DOT1L and CLASP2 with ACTs' other subtypes. [More]
Harvard Medical School researcher receives 2014 Richard King Trainee Award

Harvard Medical School researcher receives 2014 Richard King Trainee Award

​Huma Q. Rana, MD of Harvard Medical School's Dana Farber Cancer Institute is the recipient of the 2014 Richard King Trainee Award. This award was instituted five years ago by the ACMG Foundation for Genetic and Genomic Medicine to encourage ABMG or genetic counseling trainees in their careers and to foster the publication of the highest quality research in ACMG's peer-reviewed journal, Genetics in Medicine (GIM). [More]
Next Generation Sequencing market poised to reach $4.4B in 2018

Next Generation Sequencing market poised to reach $4.4B in 2018

Research and Markets has announced the addition of the "Next Generation Sequencing Report" report to their offering. [More]
Study explores relationship between genetics and lifestyle in development of AD

Study explores relationship between genetics and lifestyle in development of AD

A global study involving more than one million people worldwide will explore the relationship between genetics and lifestyle in the development of Alzheimer's disease. [More]
Metabolon announces launch of fourth-generation metabolomics platform

Metabolon announces launch of fourth-generation metabolomics platform

Metabolon, Inc., a leader in metabolomics-driven biomarker discovery, announced today the launch of DiscoveryHD4, the company's fourth-generation metabolomics platform. [More]

Appistry unveils latest version of Broad Institute’s Genome Analysis Toolkit

Appistry, Inc., a leading provider of high-performance computing and analytics solutions for next-generation medicine, today released the latest commercial version of the Broad Institute's Genome Analysis Toolkit (GATK). [More]

Concise analysis of DNA sequencing and PCR markets

Research and Markets has announced the addition of the "DNA Sequencing and PCR Markets" report to their offering. [More]
Researcher honored with Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship Award at ACMG

Researcher honored with Pfizer/ACMG Foundation Translational Genomic Scholars Fellowship Award at ACMG

Xiangling Wang, MD, PhD of Mayo Clinic in Rochester, MN was honored as the 2014-2015 recipient of the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award at the ACMG 2014 Annual Clinical Genetics Meeting in Nashville, TN. [More]

UM researchers awarded FDA contract to expand high-throughput sequencing database

Researchers at the Institute for Genome Sciences at the University of Maryland School of Medicine have been awarded a research program contract from the U.S. Food and Drug Administration (FDA) to sequence, assemble, and annotate a population of bacterial pathogens using two high-throughput sequencing (HTS) technologies in support of the expansion of a vetted public reference database. [More]
Beckman Coulter Life Sciences’ Avanti centrifuges combine high performance and application versatility

Beckman Coulter Life Sciences’ Avanti centrifuges combine high performance and application versatility

Combining high performance and application versatility, Avanti JXN-26 centrifuges from Beckman Coulter Life Sciences offer laboratories an intuitive interface and advanced data management features that expand functionality and flexibility to free user time in research and bioproduction. The instruments can be run from an Apple iOS or Android device using MobileFuge, the only mobile application available to run and manage laboratory centrifuges. [More]

Patients with autoimmune disease have 3.8-fold increased risk of developing epilepsy

Patients with an autoimmune disease have a 3.8-fold increased risk of developing epilepsy, according to a new population-level study from Boston Children's Hospital based on health insurance claim data. [More]
New high-risk cancer causing mutation identified for melanoma development

New high-risk cancer causing mutation identified for melanoma development

Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma. [More]

Whole-genome sequencing in newborns could help detect, manage wide array of disorders

Should whole-genome sequencing be used in the public-health programs that screen newborns for rare conditions? [More]
Elsevier launches open access journal addressing role of cognitive functioning in schizophrenia

Elsevier launches open access journal addressing role of cognitive functioning in schizophrenia

Elsevier, a world-leading provider of scientific, technical and medical information products and services, today announced the launch of Schizophrenia Research: Cognition, a new open access journal dedicated to publishing original research, concise research reports, brief reports, letters to the editor, and review papers addressing the role of cognitive functioning in schizophrenia. [More]
IRB researchers identify dual role of p38 protein in colon cancer

IRB researchers identify dual role of p38 protein in colon cancer

A team headed by Angel R. Nebreda at the Institute for Research in Biomedicine identifies a dual role of the p38 protein in colon cancer. The study demonstrates that, on the one hand, p38 is important for the optimal maintenance of the epithelial barrier that protects the intestine against toxic agents, thus contributing to decreased tumour development. [More]
Tgen professor to receive 2014 Hope Funds Award for developing numerous cancer treatments

Tgen professor to receive 2014 Hope Funds Award for developing numerous cancer treatments

Dr. Daniel D. Von Hoff, who has been instrumental in developing numerous new cancer treatments, is among this year's recipients of the Award of Excellence from the Hope Funds for Cancer Research. [More]

Schizophrenia Research: Cognition, an online open access journal from Elsevier

Elsevier, a world-leading provider of scientific, technical and medical information products and services, today announced the launch of Schizophrenia Research: Cognition, a new open access journal dedicated to publishing original research, concise research reports, brief reports, letters to the editor, and review papers addressing the role of cognitive functioning in schizophrenia. [More]

Personalis and Inova team up to advance genomic medicine

Inova Translational Medicine Institute and Personalis, Inc. today announced a partnership to advance genomic medicine for Inova's patient population. [More]
Research pinpoints location of key genetic regulators in blood cells

Research pinpoints location of key genetic regulators in blood cells

Research published online today in Blood, the Journal of the American Society of Hematology, presents an unprecedented look at five unique blood cells in the human body, pinpointing the location of key genetic regulators in these cells and providing a new tool that may help scientists to identify how blood cells form and shed light on the etiology of blood diseases. [More]
Study: Genetics could explain why environmental exposures can trigger onset of rheumatoid arthritis

Study: Genetics could explain why environmental exposures can trigger onset of rheumatoid arthritis

A new international study has revealed how genetics could explain why different environmental exposures can trigger the onset of different forms of rheumatoid arthritis. [More]