Sequencing all 24 human chromosomes uncovers rare disorders

Bethesda, Md., Thur., August 30, 2017 - Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. Findings were published online today, August 30, in Science Translational Medicine.
Source: NHGRI Press Releases - Category: Genetics & Stem Cells Source Type: news