标题
EX-HOM (EXome HOMozygosity): A Proof of Principle
作者
关键词
-
出版物
HUMAN HEREDITY
Volume 72, Issue 1, Pages 45-53
出版商
S. Karger AG
发表日期
2011-08-18
DOI
10.1159/000330164
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。- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
- (2011) Jutta Becker et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Performance of mutation pathogenicity prediction methods on missense variants
- (2011) Janita Thusberg et al. HUMAN MUTATION
- Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
- (2010) Christian Gilissen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
- (2010) Asli Sirmaci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
- (2010) Sarah B. Pierce et al. AMERICAN JOURNAL OF HUMAN GENETICS
- BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing
- (2010) Vincent A. Funari et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
- (2010) Tom Walsh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- (2010) Kaya Bilgüvar et al. NATURE
- Collaborative genomics for human health and cooperation in the Mediterranean region
- (2010) Tayfun Özçelik et al. NATURE GENETICS
- CEP152 is a genome maintenance protein disrupted in Seckel syndrome
- (2010) Ersan Kalay et al. NATURE GENETICS
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
- (2010) Peter M Krawitz et al. NATURE GENETICS
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- (2010) Alexander Hoischen et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia
- (2010) Kiran Musunuru et al. NEW ENGLAND JOURNAL OF MEDICINE
- Automated inference of molecular mechanisms of disease from amino acid substitutions
- (2009) B. Li et al. BIOINFORMATICS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Functional annotations improve the predictive score of human disease-related mutations in proteins
- (2009) Remo Calabrese et al. HUMAN MUTATION
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Runs of Homozygosity in European Populations
- (2008) Ruth McQuillan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration
- (2008) I. Zoller et al. JOURNAL OF NEUROSCIENCE
- A Genecentric Human Protein Atlas for Expression Profiles Based on Antibodies
- (2008) Lisa Berglund et al. MOLECULAR & CELLULAR PROTEOMICS
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