Fetal exome sequencing was performed on a fetus with a variety of ultrasound and MRI findings and it revealed the presence of the novel c.2836-3C>G splicing mutation in CHD7 (Likely Pathogenic). CHARG
NIPT, non-invasive prenatal testing * 70% of total affected pregnancies (30% receive no screening). † Assuming termination rates for trisomy 21, trisomy 18, trisomy 13, and monosomy X of 87%, 81%, 90%
array-CGH analysis of human neural stem cells derived from human ES cells during long term in vitro culture Overall design: array-CGH analysis of human neural stem cells derived from human ES cells co
The genome sequence data of NIPD trio #1, including the genome sequencing of the father (PB), mother (blood cell), the offspring (cord blood) and the maternal plasma at GW of 13.
