Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways.

European journal of medical genetics - 1 Oct 2021

Guan Jing, Li Jin, Chen Guohui, Shi Tao, Lan Lan, Wu Xiaonan, Zhao Cui, Wang Dayong, Wang Hongyang, Wang Qiuju

Abstract excerpt

Hereditary hearing loss (HL) has high genetic and phenotypical heterogeneity including the overlapping and variable phenotypic features. For sporadic HL without a family history, it is more difficult to indicate the contribution of genetic factors to define a pattern of inheritance. We assessed the contribution of genetic variants and patterns of inheritance by a family trio-based sequencing and provided new...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Genes, Dominant

Share to Genes, Recessive

Share to Genetic Testing

Share to Hearing Loss, Sensorineural

Share to Pedigree

Source

Identifiers

PMID: 34416374
DOI: 10.1016/j.ejmg.2021.104311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways.PMID 34416374Read ↗

Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.Semantic proximity Read ↗

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.Semantic proximity Read ↗

Next-Generation Sequencing Facilitates Genetic Diagnosis And Improves The Management Of Patients With Hearing Loss In Clinical PracticeSemantic proximity Read ↗

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.Semantic proximity Read ↗

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.Semantic proximity Read ↗

De novo variants are a common cause of genetic hearing loss.Semantic proximity Read ↗

Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Semantic proximity Read ↗

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.Semantic proximity Read ↗

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.Semantic proximity Read ↗

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.Semantic proximity Read ↗

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Semantic proximity Read ↗

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical PracticeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.