Search results

Prioritize with T2T-CHM13 reference genome

Status: Open.

#250 In monarch-initiative/SvAnna;

· mletexier-cnrgh opened on Sep 10, 2025

Gene/Genomic Region annotation in tabular format?

Status: Open.

#227 In monarch-initiative/SvAnna;

· kerstinth opened on Mar 7, 2023

de novo translocation OMIM:619539

curation

Status: Open.

#194 In monarch-initiative/SvAnna;

· pnrobinson opened on Oct 23, 2021

Hypoplastic femurs and pelvis (Duplication with position effects)

curation

Status: Open.

#193 In monarch-initiative/SvAnna;

· pnrobinson opened on Oct 23, 2021

Deafness, autosomal recessive 118, with cochlear aplasia

curation

Status: Open.

#192 In monarch-initiative/SvAnna;

· pnrobinson opened on Oct 23, 2021

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

curation

Status: Open.

#186 In monarch-initiative/SvAnna;

· pnrobinson opened on Jul 13, 2021

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder

curation

Status: Open.

#172 In monarch-initiative/SvAnna;

· pnrobinson opened on Jun 27, 2021

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

curation

Status: Open.

#154 In monarch-initiative/SvAnna;

· pnrobinson opened on Feb 6, 2021

294 kb insertion within the coding sequence of CCM2

curation

Status: Open.

#153 In monarch-initiative/SvAnna;

· pnrobinson opened on Feb 6, 2021