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

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

BMC medical genetics - 2 Nov 2020

Singh Kanika, Bijarnia-Mahay Sunita, Ramprasad V L, Puri Ratna Dua, Nair Sandhya, Sharda Sheetal, Saxena Renu, Kohli Sudha, Kulshreshtha Samarth, Ganguli Indrani, Gujral Kanwal, Verma Ishwar C

Abstract excerpt

BACKGROUND: To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). METHODS: After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria....

Read the complete abstract on PubMed

Topics

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

Share to Acyl-CoA Dehydrogenase
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epidermolysis Bullosa, Junctional

Share to Galactosemias

Share to Glycogen Storage Disease Type II

Share to Hyperoxaluria, Primary

Share to Lipid Metabolism, Inborn Errors

Share to Sulfate Transporters

Source

Open in PubMed Open full text

Identifiers

PMID: 33138774
DOI: 10.1186/s12881-020-01153-4
PMCID: PMC7607710

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.PMID 33138774Read ↗

NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study.Semantic proximity Read ↗

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.Semantic proximity Read ↗

Rare genetic diseases in India: Steps toward a nationwide mission program.Semantic proximity Read ↗

Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.Semantic proximity Read ↗

Single gene variants causing deafness in Asian Indians.Semantic proximity Read ↗

A whole-exome analysis of non-syndromic hearing loss patients from India reveals a wide spectrum of known and novel mutationsSemantic proximity Read ↗

Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centreSemantic proximity Read ↗

Newborn Screening in Unselected Children Using Genomic SequencingSemantic proximity Read ↗

Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing.Semantic proximity Read ↗

Clinical Applications and Implications of Common and Founder Mutations in Indian SubpopulationsSemantic proximity Read ↗

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.Semantic proximity Read ↗

Molecular diagnostics for hereditary hearing loss in children.Semantic proximity Read ↗

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