标题
From variant to function in human disease genetics
作者
关键词
-
出版物
SCIENCE
Volume 373, Issue 6562, Pages 1464-1468
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2021-09-24
DOI
10.1126/science.abi8207
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。- Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
- (2021) Andrew R. Harper et al. NATURE GENETICS
- Widespread signatures of natural selection across human complex traits and functional genomic categories
- (2021) Jian Zeng et al. Nature Communications
- GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background
- (2021) Nasa Sinnott-Armstrong et al. eLife
- Dynamic effects of genetic variation on gene expression revealed following hypoxic stress in cardiomyocytes
- (2021) Michelle C Ward et al. eLife
- Linking genome variants to disease: scalable approaches to test the functional impact of human mutations
- (2021) Gregory M Findlay HUMAN MOLECULAR GENETICS
- Cell-type-specific effects of genetic variation on chromatin accessibility during human neuronal differentiation
- (2021) Dan Liang et al. NATURE NEUROSCIENCE
- Discovery and implications of polygenicity of common diseases
- (2021) Peter M. Visscher et al. SCIENCE
- Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs
- (2021) Qingbo S. Wang et al. Nature Communications
- A brief history of human disease genetics
- (2020) Melina Claussnitzer et al. NATURE
- Evaluating drug targets through human loss-of-function genetic variation
- (2020) Eric Vallabh Minikel et al. NATURE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- A scoping review and proposed workflow for multi-omic rare disease research
- (2020) Katie Kerr et al. Orphanet Journal of Rare Diseases
- The single-cell eQTLGen consortium
- (2020) MGP van der Wijst et al. eLife
- Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations
- (2020) Benjamin J Livesey et al. Molecular Systems Biology
- Whole-genome sequencing of patients with rare diseases in a national health system
- (2020) Ernest Turro et al. NATURE
- Where Are the Disease-Associated eQTLs?
- (2020) Benjamin D. Umans et al. TRENDS IN GENETICS
- Functionally informed fine-mapping and polygenic localization of complex trait heritability
- (2020) Omer Weissbrod et al. NATURE GENETICS
- Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements
- (2020) Tiffany Amariuta et al. NATURE GENETICS
- Predicting Splicing from Primary Sequence with Deep Learning
- (2019) Kishore Jaganathan et al. CELL
- Insights into genetics, human biology and disease gleaned from family based genomic studies
- (2019) Jennifer E. Posey et al. GENETICS IN MEDICINE
- Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies
- (2019) Guy Sella et al. Annual Review of Genomics and Human Genetics
- Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine
- (2019) Miriam S Udler et al. ENDOCRINE REVIEWS
- Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
- (2019) Martin Kircher et al. Nature Communications
- Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval
- (2019) Emily A. King et al. PLoS Genetics
- Multiplex assessment of protein variant abundance by massively parallel sequencing
- (2018) Kenneth A. Matreyek et al. NATURE GENETICS
- Accurate classification of BRCA1 variants with saturation genome editing
- (2018) Gregory M. Findlay et al. NATURE
- Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations
- (2018) Steven Gazal et al. NATURE GENETICS
- Evidence for Weak Selective Constraint on Human Gene Expression
- (2018) Emily C. Glassberg et al. GENETICS
- GENCODE reference annotation for the human and mouse genomes
- (2018) Adam Frankish et al. NUCLEIC ACIDS RESEARCH
- The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
- (2018) Annalisa Buniello et al. NUCLEIC ACIDS RESEARCH
- The impact of rare variation on gene expression across tissues
- (2017) Xin Li et al. NATURE
- Pathogenic variants that alter protein code often disrupt splicing
- (2017) Rachel Soemedi et al. NATURE GENETICS
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens
- (2016) Atray Dixit et al. CELL
- A Multiplexed Single-Cell CRISPR Screening Platform Enables Systematic Dissection of the Unfolded Protein Response
- (2016) Britt Adamson et al. CELL
- Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
- (2016) Ryan Tewhey et al. CELL
- RNA splicing is a primary link between genetic variation and disease
- (2016) Yang I. Li et al. SCIENCE
- Family-Specific Variants and the Limits of Human Genetics
- (2016) Brian H. Shirts et al. TRENDS IN MOLECULAR MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Integrative analysis of 111 reference human epigenomes
- (2015) Anshul Kundaje et al. NATURE
- BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis
- (2015) Matthew C. Canver et al. NATURE
- The support of human genetic evidence for approved drug indications
- (2015) Matthew R Nelson et al. NATURE GENETICS
- Partitioning heritability by functional annotation using genome-wide association summary statistics
- (2015) Hilary K Finucane et al. NATURE GENETICS
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- Searching for missing heritability: Designing rare variant association studies
- (2014) O. Zuk et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression
- (2014) B. P. Fairfax et al. SCIENCE
- Validating therapeutic targets through human genetics
- (2013) Robert M. Plenge et al. NATURE REVIEWS DRUG DISCOVERY
- Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
- (2012) M. T. Maurano et al. SCIENCE
- Genome-wide association studies for complex traits: consensus, uncertainty and challenges
- (2008) Mark I. McCarthy et al. NATURE REVIEWS GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now