CH gene variants contribute to a number of genetic disorders but are hard to detect & often overlooked. Using #KidsFirstDRC data, investigators at @BYU developed a method to detect these variants across 7 pediatric diseases. Read more about their study
New Research: A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects: Compound heterozygous (CH) variants occur when two recessive alleles are inherited and the variants are located at different loci within… https://t.
RT @kidsfirstDRC: Data from the #KidsFirstDRC was used in this recent study from @BYU to gain new insights on how CH gene variants may play…
RT @kidsfirstDRC: Data from the #KidsFirstDRC was used in this recent study from @BYU to gain new insights on how CH gene variants may play…