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Author Details
Full Name
Simon Cawley
Affiliation
Clinical Sequencing Division
ORCID
Career Start Year
2000
Papers
30
H Index
22
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
33863344
Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.
Genome Biol
2021
33846644
Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology.
Nat Biotechnol
2021
33863366
A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.
Genome Biol
2021
21565264
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.
Genomics
2011
21776081
An integrated semiconductor device enabling non-optical genome sequencing.
Nature
2011
18776908
Integrated detection and population-genetic analysis of SNPs and copy number variation.
Nat Genet
2008
18776909
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
Nat Genet
2008
17148510
LdCompare: rapid computation of single- and multiple-marker r2 and genetic coverage.
Bioinformatics
2007
17347569
Differential dropout among SNP genotypes and impacts on association tests.
Hum Hered
2007
16706714
Multiple testing methods for ChIP-Chip high density oligonucleotide array data.
J Comput Biol
2006
15657097
Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays.
Bioinformatics
2005
17282826
Alternative base calling method for resequencing microarrays.
Conf Proc IEEE Eng Med Biol Soc
2005
16451628
Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14.
BMC Genet
2005
16451625
A genome-wide linkage analysis of alcoholism on microsatellite and single-nucleotide polymorphism data, using alcohol dependence phenotypes and electroencephalogram measures.
BMC Genet
2005
15961447
ANOSVA: a statistical method for detecting splice variation from expression data.
Bioinformatics
2005
15057822
Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Nature
2004
15782172
Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.
Nat Methods
2004
14993201
Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22.
Genome Res
2004
14980218
Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs.
Cell
2004
15060007
Accurate identification of novel human genes through simultaneous gene prediction in human, mouse, and rat.
Genome Res
2004
12824355
SLAM web server for comparative gene finding and alignment.
Nucleic Acids Res
2003
14534169
HMM sampling and applications to gene finding and alternative splicing.
Bioinformatics
2003
12618381
SLAM: cross-species gene finding and alignment with a generalized pair hidden Markov model.
Genome Res
2003
11988577
Large-scale transcriptional activity in chromosomes 21 and 22.
Science
2002
12466850
Initial sequencing and comparative analysis of the mouse genome.
Nature
2002
12015888
Applications of generalized pair hidden Markov models to alignment and gene finding problems.
J Comput Biol
2002
11738707
Phat--a gene finding program for Plasmodium falciparum.
Mol Biochem Parasitol
2001
11738710
Profiling the malaria genome: a gene survey of three species of malaria parasite with comparison to other apicomplexan species.
Mol Biochem Parasitol
2001
10731132
The genome sequence of Drosophila melanogaster.
Science
2000
11153095
DNA sequencing with transposons.
J Comput Biol
2000
1 - 30 of 30
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Massachusetts General Hospital
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