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。Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics
Linn Fagerberg et al.
MOLECULAR & CELLULAR PROTEOMICS (2014)
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Koehler et al.
NUCLEIC ACIDS RESEARCH (2014)
Genetic Screens in Human Cells Using the CRISPR-Cas9 System
Tim Wang et al.
SCIENCE (2014)
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
Stephen B. Montgomery et al.
GENOME RESEARCH (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
A systematic genome-wide analysis of zebrafish protein-coding gene function
Ross N. W. Kettleborough et al.
NATURE (2013)
Transcriptome and genome sequencing uncovers functional variation in humans
Tuuli Lappalainen et al.
NATURE (2013)
Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders
Elaine T. Lim et al.
NEURON (2013)
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
Ekta Khurana et al.
SCIENCE (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project
Abdel Ayadi et al.
MAMMALIAN GENOME (2012)
The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse
Janan T. Eppig et al.
NUCLEIC ACIDS RESEARCH (2012)
NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy
Kim D. Pruitt et al.
NUCLEIC ACIDS RESEARCH (2012)
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Jacob A. Tennessen et al.
SCIENCE (2012)
An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
Matthew R. Nelson et al.
SCIENCE (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Carol Jean Saunders et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Rare and Common Regulatory Variation in Population-Scale Sequenced Human Genomes
Stephen B. Montgomery et al.
PLOS GENETICS (2011)
The Human Phenotype Ontology
P. N. Robinson et al.
CLINICAL GENETICS (2010)
Cross-repressive interactions between Lrig3 and netrin 1 shape the architecture of the inner ear
Victoria E. Abraira et al.
DEVELOPMENT (2008)
Human-specific insertions and deletions inferred from mammalian genome sequences
Feng-Chi Chen et al.
GENOME RESEARCH (2007)
The Sequence Ontology: a tool for the unification of genome annotations
K Eilbeck et al.
GENOME BIOLOGY (2005)
Nonsense-mediated mRNA decay: terminating erroneous gene expression
KE Baker et al.
CURRENT OPINION IN CELL BIOLOGY (2004)
Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1
B Hurle et al.
HUMAN MOLECULAR GENETICS (2003)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland
A Helgason et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)