What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

doi:10.1186/s12920-020-00743-8

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

Community

Back to search

Article

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

BMC medical genomics - 17 Jul 2020

Alfares Ahmed, Alsubaie Lamia, Aloraini Taghrid, Alaskar Aljoharah, Althagafi Azza, Alahmad Ahmed, Rashid Mamoon, Alswaid Abdulrahman, Alothaim Ali, Eyaid Wafaa, Ababneh Faroug, Albalwi Mohammed, Alotaibi Raniah, Almutairi Mashael, Altharawi Nouf, Alsamer Alhanouf, Abdelhakim Marwa, Kafkas Senay, Mineta Katsuhiko, Cheung Nicole, Abdallah Abdallah M, Büchmann-Møller Stine, Fukasawa Yoshinori, Zhao Xiang, Rajan Issaac, Hoehndorf Robert, Al Mutairi Fuad, Gojobori Takashi, Alfadhel Majid

Abstract excerpt

BACKGROUND: Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the impact of extended family analysis, mainly in complex and unsolved cases. METHODS: Three cohorts were used for this analysis: one cohort to assess the hit rate between solo,...

Read the complete abstract on PubMed

Topics

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

Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Exome

Share to Exome Sequencing

Share to Family

Share to Genetic Markers

Share to Genetic Testing

Share to Genetic Variation

Source

Open in PubMed Open full text

Identifiers

PMID: 32680510
DOI: 10.1186/s12920-020-00743-8
PMCID: PMC7368798

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

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.PMID 32680510Read ↗

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.Semantic proximity Read ↗

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.Semantic proximity Read ↗

Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couplesSemantic proximity Read ↗

First steps in exploring prospective exome sequencing of consanguineous couples.Semantic proximity Read ↗

CATCHing putative causative variants in consanguineous families.Semantic proximity Read ↗

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practiceSemantic proximity Read ↗

Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.Semantic proximity Read ↗

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.Semantic proximity Read ↗

The impact of consanguinity on human health and disease with an emphasis on rare diseasesSemantic proximity Read ↗

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.Semantic proximity Read ↗

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

Pooled-parent exome sequencing to prioritise <i>de novo</i> variants in genetic diseaseSemantic proximity Read ↗

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