Lindstrand #GRD20: In a prospective study, WGS provided more information than the arrays for 3/12 patients. More info in the publication https://t.co/4I5bVGV5iQ
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability - https://t.co/Hda77ChrUP
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability | Genome Medicine | Full Text https://t.co/KgD75WBXJv
RT @GenomicsD: In rare disorder genetics, whole genome sequencing has matured into a comprehensive first tier test. Our latest study is fin…
Amazing example of WGS application to ID diagnosis. Shows all around detection of SNV, repeats, CNV, SV and ROH from WGS data and include some nice computational tools as well https://t.co/J34Weg6r1M
In rare disorder genetics, whole genome sequencing has matured into a comprehensive first tier test. Our latest study is finally out: https://t.co/n71ur2ILw8
Yes! #wgs
Whole-genome sequencing doubles diagnostic yield when compared to microarray as a front-line test in an intellectual disability cohort #WGS https://t.co/9pQSqEYzEB
Comparative evaluation of WGS vs chromosomal microarray as a first-line diagnostic test for intellectual disability: WGS comprehensively captures the diverse spectrum of pathogenic variants and improves overall diagnostic yield & accuracy. @GenomeMedic
"..diagnostic rate 27% more than doubled clinical microarray..detected wide range of SVs with high accuracy.. also allowed analysis of SNVs, UPD, and STRs... represents a powerful comprehensive genetic test in a clinical diagnostic laboratory setting.." ht
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
RT @GenomeMedicine: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intellectual disability? From cytogenetics to cytogenomics. Via @GenomeMedicine https://t.co/zkx2Op2F18 https://t.co/bL
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
RT @jsantoyo: From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum…
As a frontline test, @illumina whole genome sequencing deliver a Dx yield of 27% (includes structural variants and SNVs) vs 12% for chromosomal microarrays
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
RT @jsantoyo: From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum…
RT @MuinJKhoury: Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intel…
Is whole-genome sequencing a better first-line test than chromosomal microarray analysis in the genetic diagnosis of intellectual disability? From cytogenetics to cytogenomics. Via @GenomeMedicine https://t.co/tFcbwIrK1n https://t.co/sMyQZiP5NA
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability. https://t.co/NMbxxgllC7