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Exome

Known as: Exomes 
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders characterized by problems in social… Expand
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Highly Cited
2016
Highly Cited
2016
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA… Expand
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Highly Cited
2015
Highly Cited
2015
5March2015 The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of… Expand
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Highly Cited
2015
Highly Cited
2015
Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory… Expand
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Highly Cited
2014
Highly Cited
2014
Although a few cancer genes are mutated in a high proportion of tumours of a given type (>20%), most are mutated at intermediate… Expand
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Highly Cited
2013
Highly Cited
2013
The evidence for T-cell–mediated regression of human cancers such as non–small-cell lung carcinoma, renal cell carcinoma, and—in… Expand
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Highly Cited
2013
Highly Cited
2013
Detection of somatic point substitutions is a key step in characterizing the cancer genome. However, existing methods typically… Expand
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Highly Cited
2012
Highly Cited
2012
It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases… Expand
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Highly Cited
2012
Highly Cited
2012
A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the… Expand
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Highly Cited
2012
Highly Cited
2012
To characterize somatic alterations in colorectal carcinoma, we conducted a genome-scale analysis of 276 samples, analysing exome… Expand
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