Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

Gordon K C LeungChristopher C Y MakJasmine L F FungWilfred H S WongMandy H Y TsangMullin H C YuSteven L C PeiK S YeungGary T K MokC P LeeAmelia P W HuiMary H Y TangKelvin Y K ChanAnthony P Y LiuWanling YangP C ShamAnita S Y KanBrian Hon-Yin Chung

Published in: BMC medical genomics (2018)

WES identified pathogenic mutations in 9.1% of fetuses with SCAs and normal chromosomal microarray results. Databases for fetal genotype-phenotype correlations and standardized guidelines for variant interpretation in prenatal diagnosis need to be established to facilitate the use of WES for routine testing in prenatal diagnosis.

Keyphrases

clinical practice
copy number
genome wide
big data
machine learning
dna methylation
artificial intelligence
preterm birth