Results 41 to 50 of about 391,284 (388)
The mutational landscape of human somatic and germline cells
Nature, 2020 Over the course of an individual’s lifetime, normal human cells accumulate mutations1. Here we compare the mutational landscape in 29 cell types from the soma and germline using multiple samples from the same individuals.
L. Moore +27 more
semanticscholar +1 more source
WormBook, 2006 The completion of the C. elegans genome sequence permits the comprehensive examination of the expression and function of genes. Annotation of virtually every encoded gene in the genome allows systematic analysis of those genes using high-throughput assays, such as microarrays and RNAi.
openaire +2 more sources
Strelka2: fast and accurate calling of germline and somatic variants
Nature Methods, 2018 We describe Strelka2 (https://github.com/Illumina/strelka), an open-source small-variant-calling method for research and clinical germline and somatic sequencing applications.
Sangtae Kim +10 more
semanticscholar +1 more source
JAMA Oncology, 2020 Importance Osteosarcoma, the most common malignant bone tumor in children and adolescents, occurs in a high number of cancer predisposition syndromes that are defined by highly penetrant germline mutations.
L. Mirabello +49 more
semanticscholar +1 more source
The context-specific role of germline pathogenicity in tumorigenesis
Nature Genetics, 2021 Human cancers arise from environmental, heritable and somatic factors, but how these mechanisms interact in tumorigenesis is poorly understood. Studying 17,152 prospectively sequenced patients with cancer, we identified pathogenic germline variants in ...
P. Srinivasan +37 more
semanticscholar +1 more source
The American Journal of Bioethics, 2020 Bryan Cwik shows the importance of asking questions such as: what is goal of a given germline intervention? Does the specific method of intervention have its own idiosyncratic ethical texture? Are there alternative means of producing the same end that are less risky and less morally contentious?
openaire +3 more sources
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]
, 2013 We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan +12 more
core +3 more sources
Frontiers in Cell and Developmental Biology, 2021 The regulation of mRNA translation, both globally and at the level of individual transcripts, plays a central role in the development and function of germ cells across species.
Marianne Mercer +3 more
doaj +1 more source
Routine genetic screening with a multi-gene panel in patients with pheochromocytomas [PDF]
, 2017 PURPOSE: Several new gene mutations have been reported in recent years to be associated with a risk of familial pheochromocytoma. However, it is unclear as to whether extensive genetic testing is required in all patients. METHODS: The clinical data
Cranston, Treena +8 more
core +1 more source
Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation.
Journal of Clinical Oncology, 2015 PURPOSE Olaparib is an oral poly (ADP-ribose) polymerase inhibitor with activity in germline BRCA1 and BRCA2 (BRCA1/2) -associated breast and ovarian cancers. We evaluated the efficacy and safety of olaparib in a spectrum of BRCA1/2-associated cancers.
B. Kaufman +15 more
semanticscholar +1 more source