Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Dorota MoniesSateesh MaddirevulaWesam KurdiMohammed H AlanazyHisham Al-KhalidiMohammed Al-OwainRaashda A SulaimanEissa FaqeihEwa GoljanNiema IbrahimFirdous AbdulwahabMais HashemMohamed AbouelhodaRanad ShaheenStefan T AroldFowzan S AlkurayaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
Our results show that, in the era of genomic sequencing and "reverse phenotyping," recessive variants in dominant genes should not be dismissed based on perceived "incompatibility" with the patient's phenotype before careful consideration.Genet Med advance online publication 06 April 2017.
Keyphrases
- genome wide
- copy number
- intellectual disability
- bioinformatics analysis
- genome wide identification
- muscular dystrophy
- social support
- depressive symptoms
- high throughput
- physical activity
- social media
- single cell
- genome wide analysis
- dna methylation
- health information
- autism spectrum disorder
- gene expression
- healthcare
- transcription factor