Deciphering the multi-scale, quantitative cis-regulatory code

S Kim, J Wysocka - Molecular cell, 2023 - cell.com
Uncovering the cis-regulatory code that governs when and how much each gene is
transcribed in a given genome and cellular state remains a central goal of biology. Here, we …

Making sense of the ageing methylome

K Seale, S Horvath, A Teschendorff, N Eynon… - Nature Reviews …, 2022 - nature.com
Over time, the human DNA methylation landscape accrues substantial damage, which has
been associated with a broad range of age-related diseases, including cardiovascular …

Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer

DC Bruhm, D Mathios, ZH Foda, AV Annapragada… - Nature …, 2023 - nature.com
Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive
diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in …

Genome-wide cell-free DNA fragmentation in patients with cancer

S Cristiano, A Leal, J Phallen, J Fiksel, V Adleff… - Nature, 2019 - nature.com
Cell-free DNA in the blood provides a non-invasive diagnostic avenue for patients with
cancer. However, characteristics of the origins and molecular features of cell-free DNA are …

Detecting liver cancer using cell-free DNA fragmentomes

ZH Foda, AV Annapragada, K Boyapati, DC Bruhm… - Cancer discovery, 2023 - AACR
Liver cancer is a major cause of cancer mortality worldwide. Screening individuals at high
risk, including those with cirrhosis and viral hepatitis, provides an avenue for improved …

Cicero predicts cis-regulatory DNA interactions from single-cell chromatin accessibility data

HA Pliner, JS Packer, JL McFaline-Figueroa… - Molecular cell, 2018 - cell.com
Linking regulatory DNA elements to their target genes, which may be located hundreds of
kilobases away, remains challenging. Here, we introduce Cicero, an algorithm that identifies …

Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array with minfi

JP Fortin, TJ Triche Jr, KD Hansen - Bioinformatics, 2017 - academic.oup.com
The minfi package is widely used for analyzing Illumina DNA methylation array data. Here
we describe modifications to the minfi package required to support the …

Machine learning meets omics: applications and perspectives

R Li, L Li, Y Xu, J Yang - Briefings in Bioinformatics, 2022 - academic.oup.com
The innovation of biotechnologies has allowed the accumulation of omics data at an
alarming rate, thus introducing the era of 'big data'. Extracting inherent valuable knowledge …

[HTML][HTML] Large-scale topological changes restrain malignant progression in colorectal cancer

SE Johnstone, A Reyes, Y Qi, C Adriaens, E Hegazi… - Cell, 2020 - cell.com
Widespread changes to DNA methylation and chromatin are well documented in cancer, but
the fate of higher-order chromosomal structure remains obscure. Here we integrated …

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

KC Akdemir, VT Le, S Chandran, Y Li, RG Verhaak… - Nature …, 2020 - nature.com
Chromatin is folded into successive layers to organize linear DNA. Genes within the same
topologically associating domains (TADs) demonstrate similar expression and histone …