[HTML][HTML] Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

JD Szustakowski, S Balasubramanian, E Kvikstad… - Nature …, 2021 - nature.com
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …

The molecular pathogenesis of chronic lymphocytic leukaemia

G Fabbri, R Dalla-Favera - Nature Reviews Cancer, 2016 - nature.com
Recent investigations have provided an increasingly complete picture of the genetic
landscape of chronic lymphocytic leukaemia (CLL). These analyses revealed that the CLL …

[PDF][PDF] Estimations nationales de l'incidence et de la mortalité par cancer en France métropolitaine entre 1990 et 2018

G Defossez, S Le Guyader-Peyrou, Z Uhry… - Étude à partir des …, 2019 - researchgate.net
Le plan cancer 2014‑2019, qui entre dans sa dernière année, s' in‑titule «Guérir et prévenir
les cancers: donnons les mêmes chances à tous, partout en France». Il met d'emblée la …

[HTML][HTML] Integrative analysis of 111 reference human epigenomes

A Kundaje, W Meuleman, J Ernst, M Bilenky, A Yen… - Nature, 2015 - nature.com
The reference human genome sequence set the stage for studies of genetic variation and its
association with human disease, but epigenomic studies lack a similar reference. To …

[PDF][PDF] The genetic architecture of the human immune system: a bioresource for autoimmunity and disease pathogenesis

M Roederer, L Quaye, M Mangino, MH Beddall… - Cell, 2015 - cell.com
Despite recent discoveries of genetic variants associated with autoimmunity and infection,
genetic control of the human immune system during homeostasis is poorly understood. We …

[HTML][HTML] Wnt signaling pathway protein LEF1 in cancer, as a biomarker for prognosis and a target for treatment

L Santiago, G Daniels, D Wang… - American journal of …, 2017 - ncbi.nlm.nih.gov
Transcription factors are regulatory proteins that either activate or repress the transcription of
genes via binding to DNA regulatory sequences and regulating recruitment of transcriptional …

Chronic lymphocytic leukaemia

TJ Kipps, FK Stevenson, CJ Wu, CM Croce… - Nature reviews Disease …, 2017 - nature.com
Chronic lymphocytic leukaemia (CLL) is a malignancy of CD5+ B cells that is characterized
by the accumulation of small, mature-appearing lymphocytes in the blood, marrow and …

Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer

BM Wolpin, C Rizzato, P Kraft, C Kooperberg… - Nature …, 2014 - nature.com
We performed a multistage genome-wide association study including 7,683 individuals with
pancreatic cancer and 14,397 controls of European descent. Four new loci reached genome …

Chronic lymphocytic leukaemia

L Scarfò, AJM Ferreri, P Ghia - Critical reviews in oncology/hematology, 2016 - Elsevier
Chronic lymphocytic leukaemia (CLL) is the most common leukaemia among the adults in
the Western World. CLL (and the corresponding nodal entity small lymphocytic lymphoma …

Monogenic and polygenic inheritance become instruments for clonal selection

PR Loh, G Genovese, SA McCarroll - Nature, 2020 - nature.com
Clonally expanded blood cells that contain somatic mutations (clonal haematopoiesis) are
commonly acquired with age and increase the risk of blood cancer,,,,,,,–. The blood clones …