Generating cell-free dna libraries directly from blood

摘要: The disclosure provides methods and kits for preparing sequencing library to detect chromosomal abnormality using cell-free DNA (cfDNA) without the need of first isolating cfDNA from a liquid fraction test sample. In some embodiments, method involves reducing binding between nucleosomal proteins unwinding proteins. reduction may be achieved by treating with detergent or heating. further freezing thawing sample before is peripheral blood pregnant woman including both mother fetus, wherein used fetal such as copy number variation. other patient known suspected have cancer, can abnormalities in patient. Kits detection variation fetus disclosed are also provided.