Literature DB >> 32167563

Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion.

Jee-Soo Lee1, Kyung Bok Lee2, Han Song3, ChoongHyun Sun3, Man Jin Kim4, Sung Im Cho4, Young Kyung Lee1, Sung Sup Park4, Moon-Woo Seong4.   

Abstract

Entities:  

Keywords:  allele-specific polymerase chain reaction; linked-read sequencing; noninvasive prenatal testing; posterior risk calculation; triplet-repeat expansion disease

Year:  2020        PMID： 32167563     DOI： 10.1093/clinchem/hvaa025

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  1 in total

1.  Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

Authors:  C Liautard-Haag; G Durif; C VanGoethem; D Baux; A Louis; L Cayrefourcq; M Lamairia; M Willems; C Zordan; V Dorian; C Rooryck; C Goizet; A Chaussenot; L Monteil; P Calvas; C Miry; R Favre; E Le Boette; M Fradin; A F Roux; M Cossée; M Koenig; C Alix-Panabière; C Guissart; M C Vincent
Journal:  Sci Rep       Date:  2022-07-06       Impact factor: 4.996
  1 in total

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