Towards precision medicine
EA Ashley - Nature Reviews Genetics, 2016 - nature.com
There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …
Detecting somatic mutations in normal cells
Somatic mutations have been studied extensively in the context of cancer. Recent studies
have demonstrated that high-throughput sequencing data can be used to detect somatic …
have demonstrated that high-throughput sequencing data can be used to detect somatic …
Pathogenic germline variants in 10,389 adult cancers
We conducted the largest investigation of predisposition variants in cancer to date,
discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 …
discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 …
[HTML][HTML] Scalable open science approach for mutation calling of tumor exomes using multiple genomic pipelines
Summary The Cancer Genome Atlas (TCGA) cancer genomics dataset includes over 10,000
tumor-normal exome pairs across 33 different cancer types, in total> 400 TB of raw data files …
tumor-normal exome pairs across 33 different cancer types, in total> 400 TB of raw data files …
[HTML][HTML] Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …
RNA alterations have been described in cancer, including overexpression, altered splicing …
Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas
To compare lung adenocarcinoma (ADC) and lung squamous cell carcinoma (SqCC) and to
identify new drivers of lung carcinogenesis, we examined the exome sequences and copy …
identify new drivers of lung carcinogenesis, we examined the exome sequences and copy …
[HTML][HTML] Perspective on oncogenic processes at the end of the beginning of cancer genomics
L Ding, MH Bailey, E Porta-Pardo, V Thorsson… - Cell, 2018 - cell.com
Summary The Cancer Genome Atlas (TCGA) has catalyzed systematic characterization of
diverse genomic alterations underlying human cancers. At this historic junction marking the …
diverse genomic alterations underlying human cancers. At this historic junction marking the …
BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers
KN Maxwell, B Wubbenhorst, BM Wenz… - Nature …, 2017 - nature.com
Complete loss of BRCA1 or BRCA2 function is associated with sensitivity to DNA damaging
agents. However, not all BRCA1 and BRCA2 germline mutation-associated tumors respond …
agents. However, not all BRCA1 and BRCA2 germline mutation-associated tumors respond …
Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers
Abstract Analysis of mutational signatures can reveal underlying molecular mechanisms of
the processes that have imprinted the somatic mutations found in cancer genomes. Here, we …
the processes that have imprinted the somatic mutations found in cancer genomes. Here, we …
Before and after: comparison of legacy and harmonized TCGA genomic data commons' data
We present a systematic analysis of the effects of synchronizing a large-scale, deeply
characterized, multi-omic dataset to the current human reference genome, using updated …
characterized, multi-omic dataset to the current human reference genome, using updated …