Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNature Protocols
Volume13
Issue number11
Pages (from-to)2580-2600
Number of pages21
ISSN1754-2189
DOIs
Publication statusPublished - Nov 2018
MoE publication typeA1 Journal article-refereed

Fields of Science

  • GENETIC-VARIANTS
  • READ ALIGNMENT
  • CANCER
  • DISEASE
  • PATHOGENICITY
  • VISUALIZATION
  • FRAMEWORK
  • FEATURES
  • ELEMENTS
  • CALLS
  • 3111 Biomedicine
  • 1182 Biochemistry, cell and molecular biology

Cite this

@article{bb80b658c9c64e3eb2642103d298ac45,
title = "Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer",
keywords = "GENETIC-VARIANTS, READ ALIGNMENT, CANCER, DISEASE, PATHOGENICITY, VISUALIZATION, FRAMEWORK, FEATURES, ELEMENTS, CALLS, 3111 Biomedicine, 1182 Biochemistry, cell and molecular biology",
author = "Riku Katainen and Iikki Donner and Tatiana Cajuso and Eevi Kaasinen and Kimmo Palin and Veli M{\"a}kinen and Aaltonen, {Lauri A.} and Esa Pitk{\"a}nen",
year = "2018",
month = "11",
doi = "10.1038/s41596-018-0052-3",
language = "English",
volume = "13",
pages = "2580--2600",
journal = "Nature Protocols",
issn = "1754-2189",
publisher = "Nature Publishing Group",
number = "11",

}

TY - JOUR

T1 - Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer

AU - Katainen, Riku

AU - Donner, Iikki

AU - Cajuso, Tatiana

AU - Kaasinen, Eevi

AU - Palin, Kimmo

AU - Mäkinen, Veli

AU - Aaltonen, Lauri A.

AU - Pitkänen, Esa

PY - 2018/11

Y1 - 2018/11

KW - GENETIC-VARIANTS

KW - READ ALIGNMENT

KW - CANCER

KW - DISEASE

KW - PATHOGENICITY

KW - VISUALIZATION

KW - FRAMEWORK

KW - FEATURES

KW - ELEMENTS

KW - CALLS

KW - 3111 Biomedicine

KW - 1182 Biochemistry, cell and molecular biology

U2 - 10.1038/s41596-018-0052-3

DO - 10.1038/s41596-018-0052-3

M3 - Article

VL - 13

SP - 2580

EP - 2600

JO - Nature Protocols

JF - Nature Protocols

SN - 1754-2189

IS - 11

ER -