Disease gene identification

Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations… (More)
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Bioinformatics
SNP arraySequence assembly

Papers overview

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Highly Cited
2014
Highly Cited
2014
The Health consequences of smoking—50 years of progress : a report of the Surgeon General
The scientific evidence is incontrovertible: inhaling tobacco smoke, particularly from cigarettes, is deadly. Since the first… (More)
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2014
2014
Computational approaches for disease gene identification
Identifying disease genes from human genome is an important and fundamental problem in biomedical research. Despite many… (More)
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2012
2012
Positive-unlabeled learning for disease gene identification
BACKGROUND Identifying disease genes from human genome is an important but challenging task in biomedical research. Machine… (More)
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Highly Cited
2011
Highly Cited
2011
SF3B1 and other novel cancer genes in chronic lymphocytic leukemia.
BACKGROUND The somatic genetic basis of chronic lymphocytic leukemia, a common and clinically heterogeneous leukemia occurring in… (More)
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Review
2011
Review
2011
Disease Gene Identification
Genome-wide association studies (GWAS), in which thousands of single-nucleotide polymorphisms (SNPs) spanning the genome are… (More)
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Highly Cited
2008
Highly Cited
2008
PolySearch: a web-based text mining system for extracting relationships between human diseases, genes, mutations, drugs and metabolites
A particular challenge in biomedical text mining is to find ways of handling 'comprehensive' or 'associative' queries such as… (More)
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2006
2006
Neutrophilic inflammation and IL-8 levels in induced sputum of alpha-1-antitrypsin PiMZ subjects.
BACKGROUND Severe alpha-1-antitrypsin deficiency (AATD), due to homozygosity for the protease inhibitor (Pi) Z allele, is a… (More)
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Highly Cited
2005
Highly Cited
2005
Clinical Inertia and Outpatient Medical Errors
Clinical inertia is defined as lack of treatment intensification in a patient not at evidence-based goals for care. Clinical… (More)
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Highly Cited
2004
Highly Cited
2004
Role for CD4+ CD25+ Regulatory T Cells in Reactivation of Persistent Leishmaniasis and Control of Concomitant Immunity
Reactivation of dormant infections causes an immense burden of morbidity and mortality in the world at large. Reactivation can… (More)
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Highly Cited
2003
Highly Cited
2003
A haplotype map of the human genome.
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public… (More)
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