Genomic and precision medicine
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European Commission Personalised Medicine Conference 2016, Brussels June 1-2

The Personalised Medicine Conference 2016 will explore personalised medicine through a research policy lens. Europe is a leader in personalised medicine, an interdisciplinary field which will drive the health research and innovation agenda for years to come in view to improve healthcare.
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The healthy human microbiome

Humans are virtually identical in their genetic makeup, yet the small differences in our DNA give rise to tremendous phenotypic diversity across the human population. By contrast, the metagenome of the human microbiome—the total DNA content o
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Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13 and Fetal Sex

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An expansion of rare lineage intestinal microbes characterizes rheumatoid arthritis

The adaptive immune response in rheumatoid arthritis (RA) is influenced by an interaction between host genetics and environment, particularly the host microbiome. Association of the gut microbiota with various diseases has been reported, though the specifi
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Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility | Genomic and precision medicine | Scoop.it
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Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci 

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci  | Genomic and precision medicine | Scoop.it
This raises the possibility of a hidden molecular taxonomy that differs from the traditional classification of disease by organ or system.
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CRISPR Aids Identification of Sporadic Parkinson’s Mutation in GWAS | Articles | ClinicalOMICs

CRISPR Aids Identification of Sporadic Parkinson’s Mutation in GWAS | Articles | ClinicalOMICs | Genomic and precision medicine | Scoop.it
Researchers discover how a noncoding mutation identified in genome-wide association studies can contribute to sporadic Parkinson's disease. Read more at www.ClinicalOMICS.com.
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Choosing Wisely | Promoting conversations between providers and patients

Choosing Wisely | Promoting conversations between providers and patients | Genomic and precision medicine | Scoop.it
Choosing Wisely is an initiative of the ABIM Foundation that promotes patient-physician conversations about unnecessary medical tests and procedures.
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The contribution of rare variation to prostate cancer heritability

The contribution of rare variation to prostate cancer heritability | Genomic and precision medicine | Scoop.it
Christopher Haiman, Bogdan Pasaniuc, David Reich and colleagues report a major role for low-frequency variation in the risk for prostate cancer. They show that alleles with >1% minor allele frequency contribute an order of magnitude more to risk for prostate cancer than these alleles do to overall genetic variation.
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Second CRISPR human embryo study shows there is a long way to go

Second CRISPR human embryo study shows there is a long way to go | Genomic and precision medicine | Scoop.it
A second team in China has published the results of their attempts to edit the genes of human embryos using the CRISPR method  
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

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Landscape of somatic mutations in 560 breast cancer whole-genome sequences : Nature : Nature Publishing Group

Landscape of somatic mutations in 560 breast cancer whole-genome sequences : Nature : Nature Publishing Group | Genomic and precision medicine | Scoop.it
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A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation 

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Cancer Gene Panels Could Help to Identify Patients for Immunotherapy, Studies Suggest

genome-wide tumor mutational load predictive of immunotherapy response

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Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response

Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response | Genomic and precision medicine | Scoop.it
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Human induced pluripotent stem cell-derived cardiomyocytes recapitulate the predilection of breast cancer patients to doxorubicin-induced cardiotoxicity 

Human induced pluripotent stem cell-derived cardiomyocytes recapitulate the predilection of breast cancer patients to doxorubicin-induced cardiotoxicity  | Genomic and precision medicine | Scoop.it
The chemotherapeutic agent doxorubicin causes cardiac injury in a subset of cancer patients. This variable clinical response to doxorubicin treatment can be recapitulated in vitro by using cardiomyocytes derived from patient-specific induced pluripotent cells.
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Genetic Factors Are Not the Major Causes of Chronic Diseases

Genetic Factors Are Not the Major Causes of Chronic Diseases | Genomic and precision medicine | Scoop.it

Of 1.53 million Western European deaths in 2000, 0.25 million (16.4%) could be attributed to genetics plus shared exposures. To discover causes of disease, GWAS should be complemented with exposome-wide association studies (EWAS) that profile chemicals in biospecimens from incident disease cases and matched controls.

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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population | Genomic and precision medicine | Scoop.it
Elise Robinson, Mark Daly and colleagues present an analysis of genetic data from autism spectrum disorder (ASD) and population-based studies and find evidence for genetic correlations between ASDs and typical variation in social behavior and communication traits. These results may inform genetic models of ASDs and other neuropsychiatric disorders.
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Epigenetic germline inheritance of diet-induced obesity and insulin resistance

Epigenetic germline inheritance of diet-induced obesity and insulin resistance | Genomic and precision medicine | Scoop.it
Johannes Beckers, Martin Hrabe de Angelis and colleagues use in vitro fertilization to demonstrate epigenetic germline inheritance of acquired metabolic disorders in mice. They show that a parental high-fat diet renders offspring more susceptible to developing obesity and diabetes.
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Genetic Treatments for Sickle Cell

Genetic Treatments for Sickle Cell | Genomic and precision medicine | Scoop.it
When it comes to a devastating blood disorder, sometimes two wrongs make a right
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Health and population effects of rare gene knockouts in adult humans with related parents

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Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci

Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20–30% of the heritable component of population variation in thes
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The effects of antibiotics on the microbiome throughout development and alternative approaches for therapeutic modulation

The widespread use of antibiotics in the past 80 years has saved millions of human lives, facilitated technological progress and killed incalculable numbers of microbes, both pathogenic and commensal. Human-associated microbes perform an arra
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