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Mashup Score: 61Heritability of de novo germline mutation reveals a contribution from paternal but not maternal genetic factors - 6 day(s) ago
De novo mutations (DNMs) in the germline have long been identified as a key element in the causes of developmental and other genetic disorders. Previous attempts to investigate genetic factors affecting DNMs have suffered from a lack of statistical power, due to the difficulty of obtaining a sufficient number of parent-offspring trios. Thus, the rare disease cohort of the UK’s 100k Genomes Project (100kGP), comprising more than 10,000 trios, represents an unprecedented opportunity to investigate the genetics of germline mutation. Here we estimate SNP heritability of DNM count in offspring, as a measure of the relative contribution of genetic factors to the variance of the trait, in a PCA-selected subset of the 100kGP cohort. We estimate separate SNP heritabilities for paternally and maternally transmitted mutations (based on parentally phased DNMs in offspring), computed using parental genetic variants at a range of minimum frequencies and a variety of methodologies. We estimate a heri
Source: www.biorxiv.orgCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 184Advancing Equity and Innovation in Research Publishing: Time for a New Era in the Open Access Movement? - 2 month(s) ago
Today marks a significant milestone as the Bill & Melinda Gates Foundation (BMGF) announces a new Open Access policy, representing a departure from traditional practices. This policy will cease support for individual article publishing fees, known as APCs, and mandate the use of preprints while advocating for their review. This blog looks at the rationale behind this change, exploring the persistent challenges in research publishing and the potential of preprint servers as a solution.
Source: www.cgdev.orgCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 365
While the recent development of cryogenic electron tomography (CryoET) makes it possible to identify various macromolecules inside cells and determine their structure at near-atomic resolution, it remains challenging to visualize the complex cellular environment at the atomic level. One of the main hurdles in cell visualization is to render the millions of molecules in real time computationally. Here, using a video game engine, we demonstrate the capability of rendering massive biological macromolecules at the atomic level within their native environment. To facilitate the visualization, we also provide tools that help the interactive navigation inside the cells, as well as software that converts protein structures identified using CryoET to a scene that can be explored with the game engine. ![Figure][1] ### Competing Interest Statement The authors have declared no competing interest. [1]: pending:yes
Source: www.biorxiv.orgCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 34Zhou Lab - Statistical Genetics and Genomics - 6 month(s) ago
With the emergence of large-scale biobanks comes the opportunity to perform phenome-wide scans (PheWAS) of genetic associations for complex human diseases and traits, that is, to carry out a GWAS on all available phenotypes. In practice, this translates to testing associations between tens of millions of genetic variants and thousands of phenotypes, which pose computational and analytical challenges. To address these challenges, we have developed widely used statistical tools to enable the studies in
Source: wzhoulab.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 84Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database - 6 month(s) ago
European Journal of Human Genetics – Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 4Unlocking the potential: National Policy Roadmap for AI in healthcare - Inside Ageing - 6 month(s) ago
Aged care industry news Australia
Source: insideageing.com.auCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 9Genetic Ancestry | gnomAD browser - 6 month(s) ago
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
Source: gnomad.broadinstitute.orgCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 17The Public Health Impact and Cost-Effectiveness of the R21/Matrix-M Malaria Vaccine: A Mathematical Modelling Study - 6 month(s) ago
Background: The R21/Matrix-M vaccine which induces anti-circumsporozoite protein (CSP) antibodies against P. falciparum has demonstrated high efficacy against c
Source: papers.ssrn.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 4gnomAD - 7 month(s) ago
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
Source: gnomad.broadinstitute.orgCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 11CHARR efficiently estimates contamination from DNA sequencing data - 7 month(s) ago
DNA sample contamination is a major issue in clinical and research applications of whole genome and exome sequencing. Even modest levels of contamination can substantially affect the overall quality of variant calls and lead to widespread genotyping errors. Currently, popular tools for estimating the contamination level use short-read data (BAM/CRAM files), which are expensive to store and manipulate and often not retained or shared widely. We propose a new metric to estimate DNA sample contamination from variant-level whole genome and exome sequence data, CHARR, Contamination from Homozygous Alternate Reference Reads, which leverages the infiltration of reference reads within homozygous alternate variant calls. CHARR uses a small proportion of variant-level genotype information and thus can be computed from single-sample gVCFs or callsets in VCF or BCF formats, as well as efficiently stored variant calls in Hail VDS format. Our results demonstrate that CHARR accurately recapitulates r
Source: www.biorxiv.orgCategories: General Medicine News, Future of MedicineTweet
RT @aylwyn_scally: Here's a thread about our new preprint https://t.co/gP8xVimctG on human germline mutation.