Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel o...
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
About this item
Full title
Author / Creator
Yamaguchi-Kabata, Yumi , Yasuda, Jun , Uruno, Akira , Shimokawa, Kazuro , Koshiba, Seizo , Suzuki, Yoichi , Fuse, Nobuo , Kawame, Hiroshi , Tadaka, Shu , Nagasaki, Masao , Kojima, Kaname , Katsuoka, Fumiki , Kumada, Kazuki , Tanabe, Osamu , Tamiya, Gen , Yaegashi, Nobuo , Kinoshita, Kengo , Yamamoto, Masayuki , Kure, Shigeo , Tohoku Medical Megabank Project Study Group and The Tohoku Medical Megabank Project Study Group
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Incidence rates of Mendelian diseases vary among ethnic groups, and frequencies of variant types of causative genes also vary among human populations. In this study, we examined to what extent we can predict population frequencies of recessive disorders from genomic data, and explored better strategies for variant interpretation and classification....
Alternative Titles
Full title
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
Authors, Artists and Contributors
Author / Creator
Yasuda, Jun
Uruno, Akira
Shimokawa, Kazuro
Koshiba, Seizo
Suzuki, Yoichi
Fuse, Nobuo
Kawame, Hiroshi
Tadaka, Shu
Nagasaki, Masao
Kojima, Kaname
Katsuoka, Fumiki
Kumada, Kazuki
Tanabe, Osamu
Tamiya, Gen
Yaegashi, Nobuo
Kinoshita, Kengo
Yamamoto, Masayuki
Kure, Shigeo
Tohoku Medical Megabank Project Study Group
The Tohoku Medical Megabank Project Study Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2194146887
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2194146887
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-019-01998-7
