10 Result(s)
within
Marcin Imielinski
Biomedicine
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Article
Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment
In solid tumor oncology, circulating tumor DNA (ctDNA) is poised to transform care through accurate assessment of minimal residual disease (MRD) and therapeutic response monitoring. To overcome the sparsity of...
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Article
Open AccessMost large structural variants in cancer genomes can be detected without long reads
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many structural variants (SVs), particularly large chromosomal alterations. To characterize missing SVs in short-read whole geno...
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Faster detection of somatic structural variants
The algorithmic detection of cancer-associated variants can be accelerated by leveraging machine-learning classifiers to filter out reads matched to pan-genome k-mer sets.
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Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas
Matthew Meyerson, Ramaswamy Govindan and colleagues examine the exome sequences and copy number profiles of 660 lung adenocarcinoma and 484 lung squamous cell carcinoma tumors. They identify novel significantl...
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Identification of focally amplified lineage-specific super-enhancers in human epithelial cancers
Matthew Meyerson and colleagues identify focal amplifications of regions harboring super-enhancers near KLF5, USP12, PARD6B and MYC in epithelial cancers. CRISPR/Cas9-mediated repression or deletion of a MYC enha...
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Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Hakon Hakonarson and colleagues report a genome-wide copy number variation study in 3,506 cases of attention-deficit hyperactivity disorder. The authors identify a statistically significant enrichment of CNVs ...
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Article
Correction: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Nat. Genet. 43, 246–252 (2011); published online 6 February 2011; corrected after print 11 August 2011 In the version of this article initially published, an affiliation was missing for two authors, Maria Gazo...
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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
John Rioux and colleagues report results of a large genome-wide association meta-analysis and follow-up study of ulcerative colitis. They identify 29 new risk loci for this inflammatory disease and show that m...
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Common variants at five new loci associated with early-onset inflammatory bowel disease
Hakon Hakonarson and colleagues report the discovery of five new regions associated with susceptibility to early-onset inflammatory bowel disease. They also identify multiple loci previously implicated in the ...
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Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Hakon Hakonarson and colleagues report the identification of two new susceptibility loci for inflammatory bowel disease (IBD). One variant is near a gene encoding tumor necrosis factor receptor subfamily membe...
