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Keywords: Next-generation sequencing
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Journal Articles
Subject Area:
Genetics
Hum Hered (2021) 85 (3-6): 110–116.
Published Online: 16 June 2021
... the 6 dominant mutants in the Chinese population (c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, c.392G>T, and c.871G>A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. Results...
Journal Articles
Subject Area:
Genetics
Hum Hered (2015) 79 (3-4): 157–167.
Published Online: 28 July 2015
... or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Rare variants Next-generation sequencing Association Model-based multifactor...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (2014) 77 (1-4): 150–160.
Published Online: 29 July 2014
... of disorders both in their clinical presentation and in their genetic aetiology. The availability of large cohorts of consanguineous families and the advent of next-generation sequencing techniques is currently accelerating the pace of gene identification in ARID. Because of the extreme heterogeneity...
Journal Articles
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (2012) 74 (1): 12–16.
Published Online: 03 October 2012
..., quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Type 1 error Linkage analysis Next-generation sequencing Linkage...
Journal Articles
Subject Area:
Genetics
Hum Hered (2012) 73 (3): 139–147.
Published Online: 07 June 2012
...Guolian Kang; Dongyu Lin; Hakon Hakonarson; Jinbo Chen Next-generation sequencing technology provides an unprecedented opportunity to identify rare susceptibility variants. It is not yet financially feasible to perform whole-genome sequencing on a large number of subjects, and a two-stage design...
Journal Articles
Subject Area:
Genetics
Hum Hered (2012) 73 (2): 105–122.
Published Online: 28 April 2012
... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Extreme sampling Next-generation sequencing Pedigree samples Quantitative trait loci Rare variants National...
Journal Articles
Subject Area:
Genetics
Hum Hered (2011) 71 (4): 209–220.
Published Online: 02 July 2011
... approaches to designing substudies aimed at using next-generation sequencing technologies to discover novel variants and to select some subsets that are possibly causal for genotyping in the original case-control study and testing for association using various weighted sum indices. We find that the selection...