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Article

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.

Journal of medical genetics - 1 Mar 2020

Knapp Karen M, Sullivan Rosie, Murray Jennie, Gimenez Gregory, Arn Pamela, D'Souza Precilla, Gezdirici Alper, Wilson William G, Jackson Andrew P, Ferreira Carlos, Bicknell Louise S

Abstract excerpt

MATERIAL: Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while generating informative-phased variants, effective for recessive disorders when parental DNA is unavailable. METHODS: We have applied linked-read WGS to identify novel causes of Meier-Gorlin syndrome (MGORS), a condition recognised by short stature,...

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Identifiers

PMID: 31784481
DOI: 10.1136/jmedgenet-2019-106396
PMCID: PMC7042968

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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