Characterising and Predicting Haploinsufficiency in the Human Genome
Published 2010 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Characterising and Predicting Haploinsufficiency in the Human Genome
Authors
Keywords
-
Journal
PLoS Genetics
Volume 6, Issue 10, Pages e1001154
Publisher
Public Library of Science (PLoS)
Online
2010-10-15
DOI
10.1371/journal.pgen.1001154
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
- (2009) Bo Eskerod Madsen et al. PLoS Genetics
- Natural Selection on Genes that Underlie Human Disease Susceptibility
- (2008) Ran Blekhman et al. CURRENT BIOLOGY
- Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
- (2008) Vinh T Dang et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- Proportionally more deleterious genetic variation in European than in African populations
- (2008) Kirk E. Lohmueller et al. NATURE
- A single gene network accurately predicts phenotypic effects of gene perturbation in Caenorhabditis elegans
- (2008) Insuk Lee et al. NATURE GENETICS
- Rare independent mutations in renal salt handling genes contribute to blood pressure variation
- (2008) Weizhen Ji et al. NATURE GENETICS
- Integrated detection and population-genetic analysis of SNPs and copy number variation
- (2008) Steven A McCarroll et al. NATURE GENETICS
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
- (2008) Joshua M Korn et al. NATURE GENETICS
- The Mouse Genome Database genotypes::phenotypes
- (2008) J. A. Blake et al. NUCLEIC ACIDS RESEARCH
- Ensembl 2009
- (2008) T. J. P. Hubbard et al. NUCLEIC ACIDS RESEARCH
- Human Protein Reference Database--2009 update
- (2008) T. S. Keshava Prasad et al. NUCLEIC ACIDS RESEARCH
- Graph Clustering Via a Discrete Uncoupling Process
- (2008) Stijn Van Dongen SIAM JOURNAL ON MATRIX ANALYSIS AND APPLICATIONS
- Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome
- (2008) Adam R. Boyko et al. PLoS Genetics
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
Add 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 NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started