Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries

Autor: Hotakainen, Ronja ¹, Järvinen, Timo ¹, Kettunen, Kaisa ¹, Anttonen, Anna-Kaisa ^{1, 2, 3}, Jakkula, Eveliina ^{2, 3, ∗}

Publikováno v: In Genetics in Medicine January 2025 27(1)

Carrier frequencies, trends, and geographical distribution of hearing loss variants in China: The pooled analysis of 2,161,984 newborns

Autor: Feng, Jia, Zeng, Zhangrui, Luo, Sijian, Liu, Xuexue, Luo, Qing, Yang, Kui, Zhang, Guanbin, Liu, Jinbo

Publikováno v: In Heliyon 15 February 2024 10(3)

Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries.

Autor: Hotakainen R; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Järvinen T; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kettunen K; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Anttonen AK; Laboratory of Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland., Jakkula E; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. Electronic address: eveliina.salminen@helsinki.fi.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov 01; Vol. 27 (1), pp. 101304. Date of Electronic Publication: 2024 Nov 01.

Carrier frequencies, trends, and geographical distribution of hearing loss variants in China: The pooled analysis of 2,161,984 newborns

Autor: Jia Feng, Zhangrui Zeng, Sijian Luo, Xuexue Liu, Qing Luo, Kui Yang, Guanbin Zhang, Jinbo Liu

Publikováno v: Heliyon, Vol 10, Iss 3, Pp e24850- (2024)

Objective: The aim of this study is to comprehensively investigate the prevalence and distribution patterns of three common genetic variants associated with hearing loss (HL) in Chinese neonatal population. Methods: Prior to June 30, 2023, an extensi

Externí odkaz: https://doaj.org/article/5090d2f13c7947ce9c8f90f1c75b718e

A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders

Autor: Wenjuan Zhu, Chen Wang, Nandita Mullapudi, Yanan Cao, Lin Li, Ivan Fai Man Lo, Stephen Kwok-Wing Tsui, Xiao Chen, Yong Lei, Shen Gu

Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)

Abstract Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or the mothers of affected individuals with autosomal recessive or X-linked recessive diseases

Externí odkaz: https://doaj.org/article/8ce0e5d5ecfa4c0e88127fc033641922