Articles tagged with Human Genomes
The Autism Speaks BGI collaboration aims to generate the world's largest library of sequenced genomes of individuals with autism spectrum disorders. The initiative will perform whole genome sequencing on over 2,000 participating families and collect data from China.
Researchers identified 3 million previously undetectable elements in non-coding regions of mammalian genomes that have been preserved across millions of years, associated with human disease. This catalog makes it easier to decipher the function of disease-related variation in the human genome.
A recent study has identified millions of new regulatory elements in the human genome, which govern protein formation and are crucial for various central functions. These findings have significant implications for understanding how mutations in genes lead to diseases.
Researchers have sequenced the naked mole rat genome, revealing genes related to its exceptional traits such as longevity, cancer resistance, and low oxygen tolerance. The study identified stable gene expression of TERT and tumor suppressor p16Ink4a, which may contribute to NMR's longevity mechanism and cancer resistance.
A genomic map of constrained elements in 29 mammals reveals new insights into the development of species and the importance of genetic conservation. The study identified 3,788 candidate new exons and found possible functions for about 60 percent of DNA bases.
Researchers have sequenced the Aboriginal Australian genome, demonstrating that they descended directly from an early human expansion into Asia around 70,000 years ago. This study provides new insights into the dispersal of the first humans to leave Africa and re-writes the story of their journey to Australia.
The study demonstrates that Aboriginal Australians descend directly from an early human expansion into Asia around 70,000 years ago. The results show that modern day Aboriginal Australians are the direct descendants of the first people who arrived in Australia as early as 50,000 years ago.
Researchers analyzed genomes from East Asian, European, and African populations to discover the San people diverged from other humans 130,000 years ago. This finding contradicts previous estimates, providing a richer understanding of human evolution.
Scientists at Max Planck Institute for Molecular Genetics in Berlin have decoded a human genome into its molecular haplotypes, revealing the two chromosome sets differ from each other. The comprehensive analysis identified 159 mutated genes with disease-predisposing potential.
The green anole lizard's genome has been fully sequenced, offering clues about vertebrate evolution and the origins of human genes. The study also provides insights into how lizards adapted to different islands and evolved diverse communities.
Researchers investigated the dynamics of virus populations in the human gut during dietary changes, finding that viral populations became more similar over time. The study provided new insights into the 'gut virome' and its response to diet, shedding light on potential health consequences.
The genome of mesopolyploid crop Brassica rapa has been sequenced and analyzed, revealing a gene space covering over 98% and identifying 41,174 protein-coding genes. The study provides new insights into the evolutionary history of polyploid genomes and offers opportunities for genetic improvement of Brassica oil and vegetable crops.
Researchers found that interbreeding with archaic humans introduced beneficial variants of immune system genes, such as HLA-B*73, into modern human populations. These gene variants are now more common in West Asian and East Asian populations, where they provide an advantage to modern human fitness.
Researchers have created a detailed map of gene expression in the mouse cerebral cortex, which shares 90% of its genes with humans. The atlas provides insight into how genes work in this complex region of the brain, including correlations between specific genes and human diseases such as Parkinson's and Alzheimer's.
Researchers will use genome-wide association studies to identify genetic variants associated with diseases, enabling the adjustment of patient medications and prevention of diseases. The eMERGE network has already identified genetic variants linked to dementia, cataracts, type 2 diabetes, and more.
Researchers discovered striking similarities in gene expression patterns between healthy aging and neurodegenerative diseases, including Alzheimer's. Aging-related changes were found in individuals as young as 50, contradicting previous expectations.
A clinician-scientist team, led by Joseph M. Miano and Craig Benson, has created a model resource that identifies and outlines the function of common mutations in the human genome. They believe this information will help guide the development of new prevention and treatment options for diseases.
The CHO-K1 genome provides a better understanding of the genetics of CHO cells, accelerating the discovery and development of new recombinant protein therapies. The study identified homologs to 99% of human glycosylation-associated genes in the CHO-K1 genome.
J. Craig Venter will receive the Dickson Prize in Medicine for his groundbreaking contributions to human genome mapping and synthetic biology, including the completion of the first draft of the human genome and construction of a synthetic bacterium. The award recognizes his innovative work as a scientist, researcher, and entrepreneur.
Researchers at BGI developed a novel pipeline to detect structural variations (SVs) in whole genome assembly, identifying 277,243 SVs with high accuracy and precision. The study demonstrates the potential of de novo assembly for creating comprehensive SV maps.
Researchers developed a new technique to analyze whole genomes from different populations, revealing continued genetic exchange between African and non-African populations after 60,000 years ago. The study provides fresh insights into human history from 10,000 to one million years ago.
Researchers developed a new strategy to improve the outcome of genome-wide association studies by linking initial association signals to functional DNA changes. The framework streamlined discovery of functional DNA variants underlying GWA signals, benefiting scientists worldwide.
VAAST, a new probabilistic disease-gene finder, rapidly searches personal genomes for genes with disease-causing mutations. The tool improves upon existing methods with regard to statistical power, flexibility, and scope of use.
The Genome Wowser app allows researchers to navigate the human genome using an intuitive interface on an iPad. The app provides interactive tools for exploring genomic information, including annotations, zooming capabilities, and drag-and-swipe navigation.
A international consortium has developed a novel method to target specific genes in mouse embryonic stem cells, allowing for the disruption of almost 9,000 genes. This resource will enable researchers to study gene activity in models of human disease, advancing our understanding of gene function and its role in mammalian biology.
Scientists at St. Jude Children's Research Hospital have developed a new algorithm called CREST to identify chromosomal aberrations in tumors, which are likely to advance our understanding of cancer. Using CREST, researchers found 89 new structural differences in cancer genomes and 50 new variations in melanoma cells.
Researchers found that humans receive approximately 60 new mutations from their parents, with varying rates coming from the mother and father. The study provides a direct measure of new mutations and reveals surprising differences in mutation rates between families.
A team of international scientists, led by University of Pennsylvania geneticists, have discovered genetic variations in humans that may help resist malaria. The research found that certain mutations in genes related to red blood cell proteins could be linked to lower malaria susceptibility.
Researchers found that about three percent of new mutations are 'multi-nucleotide mutations,' which may allow organisms to leap across fitness valleys and reach a higher-fitness state by acquiring multiple mutations simultaneously. The study provides evidence for a possible new mechanism of adaptation.
A team of researchers has deciphered the genome of a tropical marine organism, Lyngbya majuscula 3L, which produces substances with biomedical promise. The study provides insights into the genetics underlying their production and reveals key information about its limitations and shortcomings.
BC scientists are part of an international team creating a vast resource bank for gene function research. The project aims to build tools to discover mutant genes' roles in human diseases, potentially leading to medical therapy advances.
The ENCODE project has released a comprehensive guide to its DNA elements database, providing a framework for understanding the human genome's function. The dataset enables scientists to associate single nucleotides with diseases and identify new paths for studying noncoding variants.
The ENCODE Project, a massive database cataloging the human genome's functional elements, is being made available as an open resource. The project provides a guide for using the vast amounts of data and resources produced so far, facilitating scientific discovery and public understanding of science.
A new study suggests that rare genetic variants are more likely to influence disease than common ones. Researchers sequenced the complete genomes of 29 people and found that functional regions of DNA were more enriched in rare variants.
The Deciphering Developmental Disorders (DDD) Project collects genomic data from 12,000 children with developmental delays or multiple malformations. The goal is to develop clinical tools to unlock genetic reasons for these conditions, enabling doctors to make rapid diagnoses in up to one in five cases.
A new evolutionary history of primates reveals complex patterns of species divergence and gene sequence evolution. The analysis provides a validated framework for understanding human adaptation and disease, and sheds light on zoonoses and primate conservation.
The Genetic RIsk Prediction Studies (GRIPS) Statement provides a checklist to enhance the transparency of study reporting in genetic risk prediction studies. This will improve the synthesis and application of information from multiple studies, increasing consistency and accuracy in clinical practice.
A Johns Hopkins Medicine study found that human endogenous retrovirus K (HERV-K) may be responsible for some cases of ALS, a neurodegenerative disease. Researchers identified HERV-K mRNA transcripts in the brains of ALS patients and found that they were present in areas surrounding the motor cortex.
A new international study found that classic selective sweeps may have played a smaller role in human evolution than thought. Researchers analyzed nearly 200 human genomes and found that smaller changes in multiple genes may have been the primary driver of human adaptation.
Scientists at Johns Hopkins University have discovered a significant number of new insertions of retrotransposon insertion polymorphisms (RIPs) in the human genome, expanding our understanding of genetic diversity. The study highlights the importance of retrotransposons in shaping human traits and disease risks.
A comprehensive analysis of human genomes identified 28,000 structural variants, including over 1,000 gene-altering mutations linked to diseases. The findings shed light on why some parts of the genome mutate more frequently than others.
The study reveals that orangutan DNA is more diverse than humans, with a unique genetic stability that has remained unchanged for 15 million years. The researchers found deep diversity in both Bornean and Sumatran orangutans, which can aid conservation efforts and inform studies of human evolution.
A recent study published in Genome Research found that certain regions of the human genome are more similar to those of orangutans than chimpanzees, contrary to previous assumptions. This suggests that humans and orangutans shared a common ancestor with high genetic diversity, while chimpanzees may have experienced a genetic bottleneck.
A groundbreaking study led by LSU's Mark Batzer has decoded the orangutan genome, revealing unexpected insights into its evolution and genetic diversity. The research found that two distinct orangutan species exist, with one species having limited genetic diversity due to a condensed habitat.
Researchers found specific DNA regions, including those related to the Notch pathway, responsible for hypoxia resistance in flies. Gain-of-function mutations resulted in over-expression of the Notch domain and increased hypoxia tolerance.
The modENCODE project has made significant breakthroughs in understanding the epigenome, a complex system that regulates gene expression in eukaryotic organisms. By analyzing the epigenetics of fruit flies and round worms, researchers have gained insights into how DNA packaging affects organism development.
Researchers have discovered hundreds of new protein-coding genes and thousands of new non-protein coding RNAs in the fruit fly and roundworm genomes. The studies also identified specific chromatin signatures associated with the regulation of protein-coding genes, revealing how genes work in concert to produce complex biological processes.
Researchers have developed an online tool to identify gene promoters, regions that guide transcription machinery to create specific proteins. The Mammalian Promoter Database integrates genomic sequencing data with publicly available data on human and mouse genomics.
A mechanical device that operates in the quantum realm has been developed by researchers from the University of California at Santa Barbara. This innovation extends quantum mechanics into a whole new realm and opens up possibilities for controlling light, electrical currents, and motion.
Harvard researchers have developed a new approach to scholarship using digitized books as a digital 'fossil record' of human culture. By tracking word frequencies over time, they can quantify cultural trends, revealing findings such as the rise of new words, forgetting of past references, and changes in celebrity fame.
Researchers have identified fragile regions in mammalian genomes that are prone to genome rearrangements, disrupting genes and altering gene regulation. The new Turnover Fragile Breakage Model suggests these regions undergo a 'birth and death' process over evolutionary timescales.
A large-scale international project is analyzing the genomes of 2,500 people to understand human genetic variability and its impact on disease susceptibility. The pilot study has already revealed significant findings on human genome sequence variation.
A NIH study identifies 18,000 promoters and 34,000 distal regulatory elements that regulate genes in human pancreatic islet cells. These findings may contribute to a better understanding of the molecular defects underlying type-2 diabetes.
Researchers at The Wistar Institute found that the three-dimensional structure of a genome exposes genes to regulation and chromosomal crosstalk. This structure positions groups of related genes near each other, allowing for efficient operation of genetic processes.
The University of Maryland School of Medicine will establish a research enterprise dedicated to autoimmune and inflammatory diseases, including celiac disease. The $45 million gift from Ken and Shelia Cafferty will support multidisciplinary research and collaborations with the University of Maryland Institute for Genome Sciences.
Researchers at Scripps Research Institute develop new strategies to identify collections of rare genetic variations associated with common conditions. By analyzing whole genomes, they aim to find genetic predispositions that can inform preventative medicine.
A large-scale genome sequencing project involving 179 people from three continents has confirmed earlier work on genetic mutations and identified new gene mutations that occur often enough to be considered common in humans. The study also discovered new mobile elements, DNA sequences that randomly reshuffle in the genome.
Researchers developed new methods to probe the human genome's repetitive landscapes, detecting subtle variations that account for normal diversity among people. These copy number variations may also determine disease susceptibilities and severity.
A international study published in Nature has cataloged the human DNA mutation repertoire from five populations, including Europe, East Asia, South Asia, West Africa, and the Americas. The study found that approximately 15 million mutations were identified, with only about 50 arising from one generation to the next.
A team of Singaporean scientists has made a major breakthrough by discovering the most important genes in human embryonic stem cells, which are crucial for treating debilitating conditions. The researchers identified a particular gene called PRDM14 that makes it easier to turn adult cells into pluripotent stem cells.