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Results: 85
BCFtools/csq
MOTIVATION: Prediction of functional variant consequences is an important part of sequencing pipelines, allowing the categorization and prioritization of genetic variants for follow up analysis. However, current predictors...
Twelve years of SAMtools and BCFtools.
Petr Danecek, James K Bonfield, Jennifer Liddle, John Marshall, Valeriu Ohan, Martin O Pollard, Andrew Whitwham, Thomas Keane, Shane A McCarthy, Robert M Davies, Heng Li
Apr 19, 2021
BACKGROUND: SAMtools and BCFtools are widely used programs for processing and analysing high-throughput sequencing data. They include tools for file format conversion and manipulation, sorting, querying, statistics, variant...
Genetic and chemotherapeutic influences on germline hypermutation.
Joanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, Matthew Neville, Petr Danecek, Tim Coorens, Elena Prigmore, Patrick Short, Giuseppe Gallone, Jeremy McRae, Genomics England Research Consortium, Jenny Carmichael, Angela Barnicoat, Helen Firth, Patrick O'Brien, Raheleh Rahbari, Matthew Hurles
Jun 11, 2022
Genetic and chemotherapeutic influences on germline hypermutation.
Joanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, Matthew Neville, Petr Danecek, Tim Coorens, Elena Prigmore, Patrick Short, Giuseppe Gallone, Jeremy McRae, Genomics England Research Consortium, Jenny Carmichael, Angela Barnicoat, Helen Firth, Patrick O'Brien, Raheleh Rahbari, Matthew Hurles
May 18, 2022
Mutations in the germline generates all evolutionary genetic variation and is a cause of genetic disease. Parental age is the primary determinant of the number of new germline mutations in an individual's genome1,2. Here we...
Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Jie Huang, Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L Min, Petr Danecek, Giovanni Malerba, Elisabetta Trabetti, Hou-Feng Zheng, UK10K consortium, Giovanni Gambaro, J Brent Richards, Richard Durbin, Nicholas J Timpson, Jonathan Marchini, Nicole Soranzo
Jun 25, 2018
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts...
Contribution of retrotransposition to developmental disorders.
Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha, Juliet Handsaker, Sebastian S Gerety, Holly Ironfield, Patrick J Short, Alejandro Sifrim, Tarjinder Singh, Kate E Chandler, Emma Clement, Katherine L Lachlan, Katrina Prescott, Elisabeth Rosser, David R FitzPatrick, Helen V Firth, Matthew E Hurles
Oct 10, 2020
Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have been attributed to RT, but the role of...
Insights into human genetic variation and population history from 929 diverse genomes.
Anders Bergström, Shane A McCarthy, Ruoyun Hui, Mohamed A Almarri, Qasim Ayub, Petr Danecek, Yuan Chen, Sabine Felkel, Pille Hallast, Jack Kamm, Hélène Blanché, Jean-François Deleuze, Howard Cann, Swapan Mallick, David Reich, Manjinder S Sandhu, Pontus Skoglund, Aylwyn Scally, Yali Xue, Richard Durbin, Chris Tyler-Smith
Feb 19, 2020
The UK10K project identifies rare variants in health and disease.
UK10K consortium, Klaudia Walter, Josine L Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John RB Perry, ChangJiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E Hendricks, Petr Danecek, Rui Li, James Floyd, Louise V Wain, Inês Barroso, Steve E Humphries, Matthew E Hurles, Eleftheria Zeggini, Jeffrey C Barrett, Vincent Plagnol, J Brent Richards, Celia MT Greenwood, Nicholas J Timpson, Richard Durbin, Nicole Soranzo
Jun 25, 2018
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000...
Adiponectin Alleles Cohort Studies Disease Exome Female Genetic Predisposition to Disease genetic variation Genetics Medical Genetics Population Genome Human Genome-Wide Association Study Genomics HEALTH Humans Lipid Metabolism Male Molecular Sequence Annotation Receptors LDL Reference Standards Sequence Analysis DNA Triglycerides United Kingdom
Serious physical assault and subsequent risk for rehospitalization in individuals with severe mental illness
Abstract: Background: Victimization is associated with worse social and clinical outcomes of individuals with severe mental illness (SMI). A relapse of SMI may be one of the clinical consequences of assaultive trauma. As far as...
Gold(I) and Silver(I) π-Complexes with Unsaturated Hydrocarbons.
Gold π-complexes have been studied largely in the past 2 decades because of their role in gold-catalyzed reactions. We report an experimental and theoretical investigation of the interaction between a wide range of unsaturated...
Boronic acids for sensing and other applications - a mini-review of papers published in 2013
Boronic acids are increasingly utilised in diverse areas of research. Including the interactions of boronic acids with diols and strong Lewis bases as fluoride or cyanide anions, which leads to their utility in various...
Mitigation efforts will not fully alleviate the increase in water scarcity occurrence probability in wheat-producing areas.
Miroslav Trnka, Song Feng, Mikhail A Semenov, Jørgen E Olesen, Kurt Christian Kersebaum, Reimund P Rötter, Daniela Semerádová, Karel Klem, Wei Huang, Margarita Ruiz-Ramos, Petr Hlavinka, Jan Meitner, Jan Balek, Petr Havlík, Ulf Büntgen
Nov 26, 2019
Global warming is expected to increase the frequency and intensity of severe water scarcity (SWS) events, which negatively affect rain-fed crops such as wheat, a key source of calories and protein for humans. Here, we develop a...
Boronic acids for sensing and other applications - a mini-review of papers published in 2013
Boronic acids are increasingly utilised in diverse areas of research. Including the interactions of boronic acids with diols and strong Lewis bases as fluoride or cyanide anions, which leads to their utility in various...
Diverse community energy futures in Saskatchewan, Canada
Abstract: This research explores peoples’ place attachment and context surrounding power production and energy futures. Facilitated, deliberative focus groups were conducted as comparative case studies in three fossil...
Are There Hidden Genes in DNA/RNA Vaccines?
Due to the fast global spreading of the Severe Acute Respiratory Syndrome Coronavirus - 2 (SARS-CoV-2), prevention and treatment options are direly needed in order to control infection-related morbidity, mortality, and economic...
A Systematic Review of Gamification and Its Assessment in EFL Teaching
The aim of this study is to examine the satisfaction of EFL teachers with gamification platforms as well as to investigate how EFL teachers perceive gamification and its effects on pupils' motivation and learning outcomes. Five...
Published by: IGI Global Scientific Publishing
Cooperative assembly of H-bonded rosettes inside a porphyrin nanoring.
The melamine·barbiturate H-bonded rosette motif is of comparable dimensions and symmetry to the cavity of a butadiyne-linked 6-porphyrin nanoring. Functionalisation of each of the barbiturate components and the pyrimidine...
Published by: Chemical science
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