Researchers mapped chromatin marks in nine cell types and linked non-coding SNPs to regulatory networks. This study provides insights into the functions of non-coding regions associated with human disease.
The study reveals several new prostate cancer genes, including those disrupting tumor suppressor proteins and rearrangements that create new genes. These findings may provide insights into the disease's development and suggest potential diagnostic markers and new treatments for aggressive forms of prostate cancer.
Researchers compiled a systematic catalog of transcription factors that control blood cell development, revealing densely interconnected circuits. The study found about 80 patterns of variable genes, or modules, which are reused in several parallel developmental branches.
A research team has pinpointed a novel cancer gene called COT (MAP3K8) as a key player behind drug resistance in melanoma. The study provides a framework for discovering ways to tackle cancer drug resistance and identifies potential targets for new treatments.
The project produced a comprehensive map of human genetic variation using next-generation DNA sequencing technologies, containing approximately 15 million SNPs and over 20,000 structural variations. The database contains more than 95 percent of the currently measurable variants found in any individual.
A global team of researchers identified 95 genetic loci associated with blood lipid levels, including a non-coding gene variant that contributes to lower 'bad' cholesterol and reduced risk of heart attack. The study provides insights into the biological connections between lipid metabolism and coronary heart disease.
A large-scale study reveals over 100 genomic sites with missing or duplicated DNA in tumors, uncovering novel cancer genes and genetic abnormalities shared across multiple cancers. The study highlights the importance of common genomic alterations in driving cancer growth.
Researchers devised method to precisely track evolution's influence on human health by identifying key genetic variations under positive natural selection. The study used a new approach called Composite of Multiple Signals (CMS) to pinpoint specific genes and changes in the genome.
Researchers found that a commonly inherited gene deletion can increase the risk of immune complications following bone marrow transplantation. The study analyzed 1,300 donor-recipient pairs and identified UGT2B17 as a key factor in graft-versus-host disease.
Researchers have devised a new way to disarm the key protein NOTCH, which drives tumor growth. The discovery lays the foundation for a new therapy aimed at critically important transcription factors that could treat various diseases, including multiple types of cancer.
The study of the domestic horse's genome reveals remarkable similarities to humans, shedding light on key aspects of mammalian evolution. The analysis also provides a starting point for mapping disease genes in horses, potentially deepening knowledge of diseases in both species.
A genome-wide study has identified a single-letter change in the genetic code associated with autism, highlighting the role of common DNA variation. The research also uncovered two other genomic regions likely containing rare genetic differences that may influence autism risk.
A genome-scale analysis of diverse Indian groups found nearly all Indians carry genomic contributions from two distinct ancestral populations, Ancestral North Indians and Ancestral South Indians. This study has medical implications for people of Indian descent.
The study found that the pathogen's genome is unusually large and has a unique structure, enabling rapid evolution of genes involved in plant infection. The 'two-speed' genomic strategy allows different parts of the genome to evolve at different rates, potentially making it harder for plants to resist infection.
A large-scale study has reconstructed a key molecular circuit in mammalian immune cells, identifying over 100 regulators that work together to distinguish viruses from bacteria. The research provides a deeper understanding of immune biology and could inspire novel ways to treat disease and design better vaccines.
A new class of nonprotein coding genes, known as lincRNAs, has been discovered in mammals with critical regulatory roles in health and disease. The study reveals that these long RNAs play important roles in regulating cellular processes such as cell proliferation, immune signaling, and stem cell biology.
A collaborative study of nearly 200 lung cancer patients has identified over 1,000 genetic alterations and pinpointed 26 frequently altered genes. The research highlights the importance of integrating multiple large-scale approaches to highlight key molecular defects in lung tumors.
Researchers have identified a genetic signature in normal tissue surrounding liver tumors that can help predict patient recurrence. This finding has the potential to unlock biological information in millions of clinical samples previously inaccessible to genomic study.
The Broad Institute will create comprehensive epigenomic maps of human cells, including embryonic stem cells and adult stem cells. The five-year grant aims to transform the understanding of gene expression control using cutting-edge technologies like ChIP-Seq and HTBS.
The Broad Institute will develop molecular tools to probe human biology and disease using small molecules. The six-year NIH grant supports high-throughput screening of molecular libraries to identify compounds with interesting biological functions.
IGV integrates multiple types of genomic data, allowing for rapid analysis and visualization. The tool provides flexible zooming and panning across all resolution scales.
Researchers at Broad Institute will explore ways to regenerate human cells lost in type 1 diabetes, using chemical biology and genomic tools. The goal is to find ways to replenish missing cells, potentially reducing or eliminating lifelong insulin therapy.
Scientists have created a comprehensive 'parts list' to date for mitochondria, including nearly 1,100 proteins, with insights gained into the biological roles and evolutionary histories of key proteins. The researchers identified a mutation in a novel gene as the cause behind one devastating mitochondrial disease.
A cross-disciplinary research team from Harvard University, Whitehead Institute, and the Broad Institute of MIT and Harvard has uncovered significant new information about the molecular changes that underlie direct reprogramming. The researchers found that most cells fail to reprogram due to activation of normal 'fail safe' mechanisms.
A genome-wide study has identified 18 DNA variants associated with blood lipid levels, including six new regions never before linked to cholesterol and triglycerides. These findings hold promise for predicting genetic risk of heart disease and identifying novel targets for cholesterol-lowering therapies.
A groundbreaking study measures gene activity in malaria parasites in humans for the first time, revealing three distinct biological states and their connection to the body's inflammatory response. These findings may help explain the varying courses of the disease in patients.
A large-scale comparative analysis of twelve fruit fly species reveals insights on gene evolution, functional elements, and a powerful approach to deciphering other genomes. The study identifies thousands of novel genes, evolutionary signatures, and systematically defines the functional parts of the fly genome.
A comprehensive genome analysis of lung cancer cells has identified more than 50 frequent genetic changes, with less than half involving known cancer genes. The study also uncovered a critical gene alteration not previously linked to any form of cancer, shedding light on the disease's biological basis.
A genome-wide association study has identified a genetic variant associated with human height, revealing the first consistent link between genes and height. The HMGA2 gene variation adds about half centimeter in height for one copy and almost full centimeter for two copies.
Scientists create whole genome maps of chromatin in embryonic stem cells, revealing a special code that underlies cell identity. The study provides a framework for mapping the complete chromatin landscape of almost any kind of cell.
A genome-wide search has uncovered three novel regions of human DNA that contain clear genetic risk factors for type 2 diabetes, as well as a genomic region associated with elevated blood triglycerides. The study reveals surprising new avenues for disease research, treatment and prevention.
A genome-scale map of genetic variation in the malaria parasite has been completed, revealing nearly 47,000 specific genetic differences among parasites worldwide. This study provides a critical foundation for dissecting the functions of important parasite genes and tracing the global spread of malaria.
A new genetic 'roadmap' tool connects human diseases with potential drugs, revealing potential applications in cancer and other diseases. The Connectivity Map uses genomic signatures to predict molecular actions of novel therapeutic compounds and suggest ways existing drugs can be newly applied.
The study found that the two species split no more than 6.3 million years ago and probably less than 5.4 million years ago, suggesting an initial split followed by later hybridization before a final separation. Genome analysis revealed big surprises, with major implications for human evolution.
The Broad Institute scientists will survey DNA of 50,000 individuals using large-scale genotyping technologies and advanced informatics to highlight genetic differences in specific genes. The project aims to accelerate the pace of identifying risk factors and genetic variants associated with human diseases.
Researchers at the Broad Institute found an unusual molecular structure near developmental genes that enables embryonic stem cells to maintain their unique plasticity. This 'bivalent domain' acts as a kind of gene gatekeeper, controlling the expression of crucial genes in early development.
A new RNAi toolset enables researchers to systematically study thousands of genes, revealing previously unknown growth regulators and confirming the library's sensitivity. The toolset, developed by a public-private partnership, is now available to all genetic researchers.
An international team of scientists has completed the genomic sequences of three Aspergillus species, including Aspergillus nidulans, A. oryzae, and A. fumigatus. The comparative analysis reveals that both A. oryzae and A. fumigatus have the genetic potential for sexual reproduction, despite being previously thought to be asexual.
The study unlocked genetic variation among dog breeds, revealing ~2.5 million individual genetic differences among breeds that can be used to locate the genetic contributions to physical and behavioral traits. The analysis also found evolutionary conservation with humans, highlighting regions of the human genome that are highly preserv...
A global consortium has released a haplotype map, providing valuable information on human genetic variation and its association with diseases. The map reveals complex patterns of inheritance, allowing for more efficient identification of genetic contributors to common diseases.
A novel tool has been developed to accurately classify human cancers based on microRNA expression patterns, offering a promising diagnostic approach. The study reveals striking correlations between miRNA profiles and specific tumor types, providing new insights into the genomic approaches to cancer diagnosis.