Current landscape of non-small cell lung cancer: epidemiology, histological classification, targeted therapies, and immunotherapy

O Rodak, MD Peris-Díaz, M Olbromski… - Cancers, 2021 - mdpi.com
Simple Summary The abundance and the dynamic of the studies on NSCLC require
frequent summaries of the current achievements in the field. In our review, we aimed to …

Role of non-coding sequence variants in cancer

E Khurana, Y Fu, D Chakravarty, F Demichelis… - Nature Reviews …, 2016 - nature.com
Patients with cancer carry somatic sequence variants in their tumour in addition to the
germline variants in their inherited genome. Although variants in protein-coding regions …

Somatic mutation in single human neurons tracks developmental and transcriptional history

MA Lodato, MB Woodworth, S Lee, GD Evrony… - Science, 2015 - science.org
Neurons live for decades in a postmitotic state, their genomes susceptible to DNA damage.
Here we survey the landscape of somatic single-nucleotide variants (SNVs) in the human …

Mosaicism in health and disease—clones picking up speed

LA Forsberg, D Gisselsson, JP Dumanski - Nature Reviews Genetics, 2017 - nature.com
Post-zygotic variation refers to genetic changes that arise in the soma of an individual and
that are not usually inherited by the next generation. Although there is a paucity of research …

Genome sequencing of normal cells reveals developmental lineages and mutational processes

S Behjati, M Huch, R Van Boxtel, W Karthaus… - Nature, 2014 - nature.com
The somatic mutations present in the genome of a cell accumulate over the lifetime of a
multicellular organism. These mutations can provide insights into the developmental lineage …

Single cell genomics: advances and future perspectives

IC Macaulay, T Voet - PLoS genetics, 2014 - journals.plos.org
Advances in whole-genome and whole-transcriptome amplification have permitted the
sequencing of the minute amounts of DNA and RNA present in a single cell, offering a …

Aging and the rise of somatic cancer-associated mutations in normal tissues

RA Risques, SR Kennedy - PLoS genetics, 2018 - journals.plos.org
DNA mutations are inevitable. Despite proficient DNA repair mechanisms, somatic cells
accumulate mutations during development and aging, generating cells with different …

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

A Abyzov, J Mariani, D Palejev, Y Zhang, MS Haney… - Nature, 2012 - nature.com
Reprogramming somatic cells into induced pluripotent stem cells (iPSCs) has been
suspected of causing de novo copy number variation,,,. To explore this issue, here we …

NGS technologies as a turning point in rare disease research, diagnosis and treatment

A Fernandez-Marmiesse, S Gouveia… - Current medicinal …, 2018 - ingentaconnect.com
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Single-cell (multi) omics technologies

L Chappell, AJC Russell, T Voet - Annual review of genomics …, 2018 - annualreviews.org
Single-cell multiomics technologies typically measure multiple types of molecule from the
same individual cell, enabling more profound biological insight than can be inferred by …