Context Individuals with monogenic diabetes due to inactivating glucokinase (GCK) variants
typically do not require treatment, except potentially during pregnancy. In pregnancy, fetal …

Background In order to mitigate the risk of allele dropout (ADO) and ensure the accuracy of
preimplantation genetic testing for monogenic disease (PGT-M), it is necessary to construct …

Background Though massively parallel sequencing has been widely applied to noninvasive
prenatal screen for common trisomy, the clinical use of massively parallel sequencing to …

Human genes have a variable length. Those having a coding sequence of extraordinary
length and a high number of exons were almost impossible to sequence using the traditional …

Objective We aimed to investigate the validity of noninvasive prenatal diagnosis (NIPD)
based on direct haplotype phasing without the proband or other family members and its …

摘要单基因遗传病是指受一对等位基因控制的遗传性疾病. 截止到目前, OMIM
数据库(http://www. ncbi. nlm. nih. gov/omim/) 已收录近6 000 种发病机制明确的单基因病 …

Direct haplotyping enables noninvasive prenatal testing (NIPT) without analyzing proband,
which is a promising strategy for pregnancies at risk of an inherited single-gene disorder …

Noninvasive prenatal testing (NIPT) utilizes cell-free fetal DNA (cffDNA) present in maternal
peripheral blood to detect chromosomal abnormalities. The detection of 21-trisomy, 18 …

In the human genome, heterozygous sites refer to genomic positions with a different allele or
nucleotide variant on the maternal and paternal chromosomes. Resolving these allelic …

Thalassemia is a genetic disease that seriously affects the health of the fetus. At present,
invasive prenatal diagnosis is the main method of thalassemia screening, but invasive …