Schematic of comprehensive genomic analysis of 142 patients.
- Masakazu Kohda (206767)
- Yoshimi Tokuzawa (246067)
- Yoshihito Kishita (843957)
- Hiromi Nyuzuki (843958)
- Yohsuke Moriyama (843959)
- Yosuke Mizuno (246098)
- Tomoko Hirata (843960)
- Yukiko Yatsuka (843961)
- Yzumi Yamashita-Sugahara (843962)
- Yutaka Nakachi (246073)
- Hidemasa Kato (431639)
- Akihiko Okuda (431640)
- Shunsuke Tamaru (843963)
- Nurun Nahar Borna (843964)
- Kengo Banshoya (843965)
- Toshiro Aigaki (189058)
- Yukiko Sato-Miyata (843966)
- Kohei Ohnuma (843967)
- Tsutomu Suzuki (25497)
- Asuteka Nagao (843968)
- Hazuki Maehata (843969)
- Fumihiko Matsuda (137136)
- Koichiro Higasa (23926)
- Masao Nagasaki (133852)
- Jun Yasuda (46096)
- Masayuki Yamamoto (168116)
- Takuya Fushimi (843970)
- Masaru Shimura (843971)
- Keiko Kaiho-Ichimoto (843972)
- Hiroko Harashima (843973)
- Taro Yamazaki (843974)
- Masato Mori (112203)
- Kei Murayama (843975)
- Akira Ohtake (843976)
- Yasushi Okazaki (3100)
Publication date
January 2016
DOIAbstract
<p>All 142 patients were subjected to mtDNA amplicon-based sequencing, WES, and high-density oligonucleotide array analysis in parallel. Variants were filtered on the basis of their rarity in public databases and population-matched datasets. For each analysis, candidate variants were prioritized on the basis of the type of variant. Candidate variants were validated by Sanger sequencing and tested for segregation within the family if DNA was available. mtDNA, mitochondrial DNA; pVUS, prioritized variant of unknown significance; CNV, copy number variation</p
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