ArticleNature protocols2018
Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer.
Article in Nature protocols, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 47 citations in OpenAlex.
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- Tumour immune contexture and immune evasion in sporadic and Lynch syndrome-associated microsatellite unstable colorectal cancers.British journal of cancer · 2026Article
- Developing pangenomes for large and complex plant genomes and their representation formats.Journal of advanced research · 2025Review
- GermlineJCO precision oncology · 2025Article
- Comprehensive metabolomic and epigenomic characterization of microsatellite stable BRAF-mutated colorectal cancer.Oncogene · 2025Article
- Article
- Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.BJC reports · 2025Article
- Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours.Human molecular genetics · 2024Article
- Genome-wide somatic mutation analysis of sinonasal adenocarcinoma with and without wood dust exposure.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2024Article
- Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2024Article
- Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.Human genomics · 2023Article
- NovelCancers · 2023Article
- Rare variants in complement system genes associate with endothelial damage after pediatric allogeneic hematopoietic stem cell transplantation.Frontiers in immunology · 2023Article
- Exploration of Tools for the Interpretation of Human Non-Coding Variants.International journal of molecular sciences · 2022Review
- A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase.Oncogenesis · 2022Article
- Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.Journal of medical genetics · 2022Article
- Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.Scientific reports · 2022Article
- WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.Human molecular genetics · 2021Article
- Parity associates with chromosomal damage in uterine leiomyomas.Nature communications · 2021Article
- Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.European journal of endocrinology · 2021Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing (NGS) is routinely applied in life sciences and clinical practice, but interpretation of the massive quantities of genomic data produced has become a critical challenge. The genome-wide mutation analyses enabled by NGS have had a revolutionary impact in revealing the predisposing and driving DNA alterations behind a multitude of disorders. The workflow to identify causative mutations from NGS data, for example in cancer and rare diseases, commonly involves phases such as quality filtering, case-control comparison, genome annotation, and visual validation, which require multiple processing steps and usage of various tools and scripts. To this end, we have introduced an interactive and user-friendly multi-platform-compatible software, BasePlayer, which allows scientists, regardless of bioinformatics training, to carry out variant analysis in disease genetics settings. A genome-wide scan of regulatory regions for mutation clusters can be carried out with a desktop computer in ~10 min with a dataset of 3 million somatic variants in 200 whole-genome-sequenced (WGS) cancers.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.