[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …
architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of …
mi RNA s at the interface of cellular stress and disease
A Emde, E Hornstein - The EMBO journal, 2014 - embopress.org
microRNAs (miRNAs) are a family of small, non‐coding RNAs, which provides broad
silencing activity of mRNA targets in a sequence‐dependent fashion. This review explores the …
silencing activity of mRNA targets in a sequence‐dependent fashion. This review explores the …
[HTML][HTML] Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions
Background Colorectal cancer is the second leading cause of cancer death in the United
States, with over 50,000 deaths estimated in 2014. Molecular profiling for somatic mutations …
States, with over 50,000 deaths estimated in 2014. Molecular profiling for somatic mutations …
Whole-exome sequencing of metastatic cancer and biomarkers of treatment response
Importance Understanding molecular mechanisms of response and resistance to anticancer
therapies requires prospective patient follow-up and clinical and functional validation of …
therapies requires prospective patient follow-up and clinical and functional validation of …
[HTML][HTML] X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been identified. …
During the past two decades in excess of 100 X-chromosome ID genes have been identified. …
[HTML][HTML] Distinct classes of complex structural variation uncovered across thousands of cancer genome graphs
Cancer genomes often harbor hundreds of somatic DNA rearrangement junctions, many of
which cannot be easily classified into simple (eg, deletion) or complex (eg, chromothripsis) …
which cannot be easily classified into simple (eg, deletion) or complex (eg, chromothripsis) …
A review of automated debugging systems: Knowledge, strategies and techniques
M Decasse, AM Emde - Proceedings.[1989] 11th International …, 1988 - computer.org
The authors propose a classification of debugging knowledge, and a description of the
corresponding knowledge representation in the systems. Then they propose a classification of …
corresponding knowledge representation in the systems. Then they propose a classification of …
RazerS—fast read mapping with sensitivity control
Second-generation sequencing technologies deliver DNA sequence data at unprecedented
high throughput. Common to most biological applications is a mapping of the reads to an …
high throughput. Common to most biological applications is a mapping of the reads to an …
Human papillomavirus and the landscape of secondary genetic alterations in oral cancers
…, M Zucker, B Stache-Crain, AK Emde… - Genome …, 2019 - genome.cshlp.org
Human papillomavirus (HPV) is a necessary but insufficient cause of a subset of oral
squamous cell carcinomas (OSCCs) that is increasing markedly in frequency. To identify …
squamous cell carcinomas (OSCCs) that is increasing markedly in frequency. To identify …
Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar hepatocellular carcinoma (FL-HCC) is a rare liver tumor affecting adolescents
and young adults with no history of primary liver disease or cirrhosis. We identified a …
and young adults with no history of primary liver disease or cirrhosis. We identified a …