Bioinformatics for Human Genetics: Promises and Challenges

BioGrid Australia facilitates collaborative medical and bioinformatics research across hospitals and medical research institutes by linking data from diverse disease and data types

(2011) Robert B. Merriel et al.   HUMAN MUTATION

A simplified method for segregation analysis (SISA) to determine penetrance and expression of a genetic variant in a family

(2011) Pål Møller et al.   HUMAN MUTATION

Initiating a Human Variome Project Country Node

(2011) Jumana AlAama et al.   HUMAN MUTATION

CGEN-A clinical GENetics software application

(2011) Pål Møller et al.   HUMAN MUTATION

Emerging landscape of genomics in the electronic health record for personalized medicine

(2011) Mollie H. Ullman-Cullere et al.   HUMAN MUTATION

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner et al.   HUMAN MUTATION

An informatics project and online “Knowledge Centre” supporting modern genotype-to-phenotype research

(2011) Adam J. Webb et al.   HUMAN MUTATION

The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing

(2011) Samuel J. Aronson et al.   HUMAN MUTATION

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

(2011) Inge T. Bernstein et al.   HUMAN MUTATION

Databases in the area of pharmacogenetics

(2011) Sarah C. Sim et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

A survey of sequence alignment algorithms for next-generation sequencing

(2010) H. Li et al.   BRIEFINGS IN BIOINFORMATICS

How to catch all those mutations-the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

(2010) Maija R.J. Kohonen-Corish et al.   HUMAN MUTATION

Putting Biomedical Ontologies to Work

(2010) B. Smith et al.   METHODS OF INFORMATION IN MEDICINE

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

The Characterization of Twenty Sequenced Human Genomes

(2010) Kimberly Pelak et al.   PLoS Genetics

A standard variation file format for human genome sequences

(2010) Martin G Reese et al.   GENOME BIOLOGY

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ProPhylER: A curated online resource for protein function and structure based on evolutionary constraint analyses

(2009) J. Binkley et al.   GENOME RESEARCH

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

The Cell Cycle Ontology: An application ontology for the representation and integrated analysis of the cell cycle process

(2009) Erick Antezana et al.   GENOME BIOLOGY

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS