Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia | Zendy

Kwan-Wood Gabriel Lam | Zendy; Peiyong Jiang | Zendy; Gary J. W. Liao | Zendy; K.C. Allen Chan | Zendy; Tak Yeung Leung | Zendy; Rossa W. K. Chiu | Zendy; Y. M. Dennis Lo | Zendy

Open Access

Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia

Author(s) -

Kwan-Wood Gabriel Lam,

Peiyong Jiang,

Gary J. W. Liao,

K.C. Allen Chan,

Tak Yeung Leung,

Rossa W. K. Chiu,

Y. M. Dennis Lo

Publication year - 2012

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2012.189589

Subject(s) - haplotype , massive parallel sequencing , dna sequencing , prenatal diagnosis , biology , thalassemia , genetics , digital polymerase chain reaction , gene , fetus , computational biology , polymerase chain reaction , genotype , pregnancy

A genomewide genetic and mutational profile of a fetus was recently determined via deep sequencing of maternal plasma DNA. This technology could have important applications for noninvasive prenatal diagnosis (NIPD) of many monogenic diseases. Relative haplotype dosage (RHDO) analysis, a core step of this procedure, would allow one to elucidate the maternally inherited half of the fetal genome. For clinical applications, the cost and complexity of data analysis might be reduced via targeted application of this approach to selected genomic regions containing disease-causing genes. There is thus a need to explore the feasibility of performing RHDO analysis in a targeted manner.

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