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。Multiple causal variants underlie genetic associations in humans
Nathan S. Abell et al.
SCIENCE (2022)
Genome-wide functional screen of 3′UTR variants uncovers causal variants for human disease and evolution
Dustin Griesemer et al.
CELL (2021)
Determinants of enhancer and promoter activities of regulatory elements
Robin Andersson et al.
NATURE REVIEWS GENETICS (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Xihao Li et al.
NATURE GENETICS (2020)
Intronic CNVs and gene expression variation in human populations
Maria Rigau et al.
PLOS GENETICS (2019)
regBase: whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants
Shijie Zhang et al.
NUCLEIC ACIDS RESEARCH (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications
Daniel Backenroth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
High-throughput characterization of genetic effects on DNA-protein binding and gene transcription
Cynthia A. Kalita et al.
GENOME RESEARCH (2018)
A semi-supervised approach for predicting cell-type specific functional consequences of non-coding variation using MPRAs
Zihuai He et al.
NATURE COMMUNICATIONS (2018)
Similar Ratios of Introns to Intergenic Sequence across Animal Genomes
Warren R. Francis et al.
GENOME BIOLOGY AND EVOLUTION (2017)
GeneHancer: genome-wide integration of enhancers and target genes in GeneCards
Simon Fishilevich et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2017)
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
Eliseos J. Mucaki et al.
BMC MEDICAL GENOMICS (2016)
Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay
Ryan Tewhey et al.
CELL (2016)
Non-Coding Loss-of-Function Variation in Human Genomes
Zachary Zappala et al.
HUMAN HEREDITY (2016)
A spectral approach integrating functional genomic annotations for coding and noncoding variants
Iuliana Ionita-Laza et al.
NATURE GENETICS (2016)
Nucleotide diversity analysis highlights functionally important genomic regions
Tatiana V. Tatarinova et al.
SCIENTIFIC REPORTS (2016)
Non-coding genetic variants in human disease
Feng Zhang et al.
HUMAN MOLECULAR GENETICS (2015)
An atlas of active enhancers across human cell types and tissues
Robin Andersson et al.
NATURE (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
UK Biobank Data: Come and Get It
Naomi E. Allen et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Chromatin organization is a major influence on regional mutation rates in human cancer cells
Benjamin Schuster-Boeckler et al.
NATURE (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay
Alexandre Melnikov et al.
NATURE BIOTECHNOLOGY (2012)
Fast Computation and Applications of Genome Mappability
Thomas Derrien et al.
PLOS ONE (2012)
Genome-wide histone acetylation data improve prediction of mammalian transcription factor binding sites
Stephen A. Ramsey et al.
BIOINFORMATICS (2010)
Insights from genomic profiling of transcription factors
Peggy J. Farnham
NATURE REVIEWS GENETICS (2009)
1000 Genomes project
Nayanah Siva
NATURE BIOTECHNOLOGY (2008)
Common and rare variants in multifactorial susceptibility to common diseases
Walter Bodmer et al.
NATURE GENETICS (2008)
Epigenetics: A landscape takes shape
Aaron D. Goldberg et al.
CELL (2007)
分享论文
