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Academic Publication Genome Sequencing for Diagnosing Rare Diseases
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Analysis of cell-free DNA for cancer diagnostics using liquid biopsies
Chromatin organisation influences gene regulation and genome stability, yet its dysregulation in cancer remains incompletely understood. This has become particularly important for patient diagnosti...
Proteomic signatures improve risk prediction for common and rare diseases
AbstractFor many diseases there are delays in diagnosis due to a lack of objective biomarkers for disease onset. Here, in 41,931 individuals from the United Kingdom Biobank Pharma Proteomics Projec...
A Human Pan-Disease Whole Blood Transcriptomics Atlas Reveals Systemic Signatures Across Diseases
This dataset accompanies the manuscript titled “A Human Pan-Disease Whole Blood Transcriptomics Atlas Reveals Systemic Signatures Across Diseases” Whole-blood transcriptomics (WBT) provides critica...
ChIP-Atlas 3.0: a data-mining suite to explore chromosome architecture together with large-scale regulome data
Abstract ChIP-Atlas (https://chip-atlas.org/) presents a suite of data-mining tools for analyzing epigenomic landscapes, powered by the comprehensive integration of over 376 000 publ...
Telomere-to-Telomere Phased Genome Assembly Using HERRO-Corrected Simplex Nanopore Reads
Telomere-to-telomere phased assemblies have become the norm in genomics. To achieve these for diploid and even polyploid genomes, the contemporary approach involves a combination of two long-read s...
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What is the core focus of the research titled 'Genome Sequencing for Diagnosing Rare Diseases'?
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What other academic literature is closely related to 'Genome Sequencing for Diagnosing Rare Diseases'?
Yes, highly correlated activity was mapped. An entry titled 'Analysis of cell-free DNA for cancer diagnostics using liquid biopsies' discusses this: Chromatin organisation influences gene regulation and genome stability, yet its dysregulation in cancer remains incompletely understood. This has b...
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