Latest Research in Genetic factors in colorectal cancer

Top Research Topics in Genetic factors in colorectal cancer

• Genomics and Rare Diseases — 9 papers
• Genetic factors in colorectal cancer — 3 papers
• Cardiomyopathy and Myosin Studies — 1 papers
• Alcohol Consumption and Health Effects — 1 papers
• Hemoglobinopathies and Related Disorders — 1 papers
• Trypanosoma species research and implications — 1 papers
• Gene expression and cancer classification — 1 papers
• Muscle Physiology and Disorders — 1 papers
• Inflammatory Myopathies and Dermatomyositis — 1 papers

Highest-Cited Papers

1. dicast: a machine learning method for accurate structural variant detection from short-read sequencing data (1 citations)
2. Genomize-SEQ: an NGS data analysis platform for genomic variant classification and prioritization (2 citations)
3. Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1
4. Prioritizing MSH6 Missense Variants of Uncertain Significance Using Integrated Computational and Population Evidence
5. Prioritizing MSH6 Missense Variants of Uncertain Significance Using Integrated Computational and Population Evidence
6. The molecular landscape of hypertrophic cardiomyopathy across disease stages and genotypes
7. Metabolic differences among patients with alcohol-related liver disease using targeted and untargeted metabolomics techniques
8. Pathogenicity of NUSAP1 Variants Is Defined by NMD ‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis
9. Prioritizing MSH6 Missense Variants of Uncertain Significance Using Integrated Computational and Population Evidence
10. Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome
11. Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis
12. Nanoplate Digital PCR for Identification of α0-Thalassemia (SEA Deletion): Carrier Screening and Possible Application to Prenatal Diagnosis
13. Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexity
14. TargetQC: A targeted quality control framework for clinical genomic testing
15. A drug repurposing screen reveals dopamine signaling as a candidate therapeutic pathway for PIGA-CDG
16. T-rex: standardized analysis of germline variants in whole-exome sequencing trios
17. A Practical Workflow for Correcting Kit-Specific Effects in Whole-Exome Sequencing Data
18. Urinary Proteome Profiling by Several Methods Identifies Titin as the Most-Differentiating Noninvasive Urinary Biomarker of Disease Severity in Becker Muscular Dystrophy
19. GNE Myopathy: 25 Years After Gene Identification: Facts, Controversies, Enigmas, Prospects