Clonal expansion in non-cancer tissues

N Kakiuchi, S Ogawa - Nature Reviews Cancer, 2021 - nature.com
Cancer is a clonal disorder derived from a single ancestor cell and its progenies that are
positively selected by acquisition of 'driver mutations'. However, the evolution of positively …

Therapeutic targeting of long non-coding RNAs in cancer

G Arun, SD Diermeier, DL Spector - Trends in molecular medicine, 2018 - cell.com
Long non-coding RNAs (lncRNAs) represent a significant population of the human
transcriptome. Many lncRNAs exhibit cell-and/or tissue/tumor-specific expression, making …

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

M Byrska-Bishop, US Evani, X Zhao, AO Basile… - Cell, 2022 - cell.com
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

E Rheinbay, MM Nielsen, F Abascal, JA Wala… - Nature, 2020 - nature.com
The discovery of drivers of cancer has traditionally focused on protein-coding genes,,–. Here
we present analyses of driver point mutations and structural variants in non-coding regions …

Whole-genome and epigenomic landscapes of etiologically distinct subtypes of cholangiocarcinoma

A Jusakul, I Cutcutache, CH Yong, JQ Lim, MN Huang… - Cancer discovery, 2017 - AACR
Cholangiocarcinoma (CCA) is a hepatobiliary malignancy exhibiting high incidence in
countries with endemic liver-fluke infection. We analyzed 489 CCAs from 10 countries …

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

S Nik-Zainal, H Davies, J Staaf, M Ramakrishna… - Nature, 2016 - nature.com
We analysed whole-genome sequences of 560 breast cancers to advance understanding of
the driver mutations conferring clonal advantage and the mutational processes generating …

The molecular taxonomy of primary prostate cancer

A Abeshouse, J Ahn, R Akbani, A Ally, S Amin… - Cell, 2015 - cell.com
There is substantial heterogeneity among primary prostate cancers, evident in the spectrum
of molecular abnormalities and its variable clinical course. As part of The Cancer Genome …

Mapping and characterization of structural variation in 17,795 human genomes

HJ Abel, DE Larson, AA Regier, C Chiang, I Das… - Nature, 2020 - nature.com
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè… - Science, 2015 - science.org
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

FE Dewey, MF Murray, JD Overton, L Habegger… - Science, 2016 - science.org
INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …