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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Highly Cited
2014
Highly Cited
2014
The scientific evidence is incontrovertible: inhaling tobacco smoke, particularly from cigarettes, is deadly. Since the first… (More)
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2014
2014
Identifying disease genes from human genome is an important and fundamental problem in biomedical research. Despite many… (More)
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2012
2012
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
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
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
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
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 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
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
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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