Omixcare: omics technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identi ed 13% additional candidate variants

HIGHLIGHTS

• who: October and collaborators from the University Hospital Essen, Germany have published the research: OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identi ed 13% additional candidate variants, in the Journal: (JOURNAL)
• future: Studies will be required to investigate the extent to which ARID5B shares differentially methylated regions with WHS.

SUMMARY

(McInerney-Leo et_al, 2013; Veeramah et_al, 2013; Clark et_al, 2018). Some recent studies reported an increased diagnostic yield of 7.5%-35% using RNA-Seq as a . . .

 



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