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A second generation human haplotype map of over 3.1 million SNPs
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations andExpand
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. HereExpand
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International network of cancer genome projects
The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical andExpand
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Managing incidental findings and research results in genomic research involving biobanks and archived data sets
Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder toExpand
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Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer
Background and objective: In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screeningExpand
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Research Ethics Recommendations for Whole-Genome Research: Consensus Statement
Interest in whole-genome research has grown substantially over the past few months. This article explores the challenging ethics issues associated with this work.
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Trends in ethical and legal frameworks for the use of human biobanks
Numerous studies of genetic epidemiology and post-genomics in respiratory diseases rely on the use of biobanks, defined as organised biological sample collections with associated personal andExpand
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The emergence of an ethical duty to disclose genetic research results: international perspectives
The last decade has witnessed the emergence of international ethics guidelines discussing the importance of disclosing global and also, in certain circumstances, individual genetic research resultsExpand
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Recommendations for returning genomic incidental findings? We need to talk!
The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. TheExpand
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Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies
TLDR
DataSHaPER provides a flexible, structured approach to the harmonization and pooling of information between studies. Expand
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