scholarly journals Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

2013 ◽  
Vol 33 (6) ◽  
pp. 602-608 ◽  
Author(s):  
Tze Kin Lau ◽  
Fu Man Jiang ◽  
Robert J. Stevenson ◽  
Tsz Kin Lo ◽  
Lin Wai Chan ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Prenatal Testing ◽  
Clinical Service ◽  
Whole Genome ◽  
Secondary Findings ◽  
Non Invasive ◽  
Fetal Aneuploidies

Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non-invasive prenatal testing

2017 ◽  
Vol 37 (13) ◽  
pp. 1311-1321 ◽  
Author(s):  
Fang Chen ◽  
Ping Liu ◽  
Ying Gu ◽  
Zhu Zhu ◽  
Amulya Nanisetti ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Prenatal Testing ◽  
Maternal Blood ◽  
Whole Genome ◽  
Fetal Cells ◽  
Non Invasive

scholarly journals Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 743
Author(s):  
Alisa Morshneva ◽  
Polina Kozyulina ◽  
Elena Vashukova ◽  
Olga Tarasenko ◽  
Natalia Dvoynova ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Variant Calling ◽  
Prenatal Testing ◽  
Large Data ◽  
Large Data Sets ◽  
Data Sets ◽  
Whole Genome ◽  
Clinical Tests ◽  
Non Invasive

Clinical tests based on whole-genome sequencing are generally focused on a single task approach, testing one or several parameters, although whole-genome sequencing (WGS) provides us with large data sets that can be used for many supportive analyses. In spite of low genome coverage, data of WGS-based non-invasive prenatal testing (NIPT) contain fully sequenced mitochondrial DNA (mtDNA). This mtDNA can be used for variant calling, ancestry analysis, population studies and other approaches that extend NIPT functionality. In this study, we analyse mtDNA pool from 645 cell-free DNA (cfDNA) samples of pregnant women from different regions of Russia, explore the effects of transportation and storing conditions on mtDNA content, analyse effects, frequency and location of mitochondrial variants called from samples and perform haplogroup analysis, revealing the most common mitochondrial superclades. We have shown that, despite the relatively low sequencing depth of unamplified mtDNA from cfDNA samples, the mtDNA analysis in these samples is still an informative instrument suitable for research and screening purposes.

scholarly journals Actionable secondary findings from whole-genome sequencing of 954 East Asians

2017 ◽  
Vol 137 (1) ◽  
pp. 31-37 ◽  
Author(s):  
Clara Sze-man Tang ◽  
Saloni Dattani ◽  
Man-ting So ◽  
Stacey S. Cherny ◽  
Paul K. H. Tam ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Secondary Findings ◽  
East Asians
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