Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
出版年份 2018 全文链接
标题
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2018-06-28
DOI
10.1038/s41431-018-0177-4
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A spectral approach integrating functional genomic annotations for coding and noncoding variants
- (2016) Iuliana Ionita-Laza et al. NATURE GENETICS
- Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
- (2016) Wouter van Rheenen et al. NATURE GENETICS
- A reference panel of 64,976 haplotypes for genotype imputation
- (2016) NATURE GENETICS
- Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
- (2016) Andrea Ganna et al. NATURE NEUROSCIENCE
- Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls
- (2016) Yi-Juan Hu et al. PLoS Genetics
- Second-generation PLINK: rising to the challenge of larger and richer datasets
- (2015) Christopher C Chang et al. GigaScience
- Rare-Variant Association Analysis: Study Designs and Statistical Tests
- (2014) Seunggeung Lee et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
- (2013) Come Raczy et al. BIOINFORMATICS
- Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data
- (2013) B. L. Browning et al. GENETICS
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
- (2013) I. Fogh et al. HUMAN MOLECULAR GENETICS
- FaST-LMM-Select for addressing confounding from spatial structure and rare variants
- (2013) Jennifer Listgarten et al. NATURE GENETICS
- Identifying Personal Genomes by Surname Inference
- (2013) M. Gymrek et al. SCIENCE
- Differential confounding of rare and common variants in spatially structured populations
- (2012) Iain Mathieson et al. NATURE GENETICS
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies
- (2011) Dan-Yu Lin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
- (2011) M. H. B. Huisman et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- A linear complexity phasing method for thousands of genomes
- (2011) Olivier Delaneau et al. NATURE METHODS
- Clinical diagnosis and management of amyotrophic lateral sclerosis
- (2011) Orla Hardiman et al. Nature Reviews Neurology
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
- (2011) Mariely DeJesus-Hernandez et al. NEURON
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
- (2011) Alan E. Renton et al. NEURON
- GCTA: A Tool for Genome-wide Complex Trait Analysis
- (2010) Jian Yang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An estimate of amyotrophic lateral sclerosis heritability using twin data
- (2010) A. Al-Chalabi et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis
- (2010) S. Byrne et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
- (2010) Andrew C. Elden et al. NATURE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
- (2009) Michael A van Es et al. NATURE GENETICS
- Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
- (2009) C. Vance et al. SCIENCE
- TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
- (2008) J. Sreedharan et al. SCIENCE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started