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

Finding disease variants in Mendelian disorders by using sequence data: methods and applications.

American journal of human genetics - 9 Dec 2011

Ionita-Laza Iuliana, Makarov Vlad, Yoon Seungtai, Raby Benjamin, Buxbaum Joseph, Nicolae Dan L, Lin Xihong

Abstract excerpt

Many sequencing studies are now underway to identify the genetic causes for both Mendelian and complex traits. Via exome-sequencing, genes harboring variants implicated in several Mendelian traits have already been identified. The underlying methodology in these studies is a multistep algorithm based on filtering variants identified in a small number of affected individuals and depends on whether they are novel...

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Dysostosis
Share to Hematologic Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

Share to Mandibulofacial Dysostosis

Share to Micrognathism

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Poisson Distribution

Share to Vestibular Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 22137099
DOI: 10.1016/j.ajhg.2011.11.003
PMCID: PMC3234377

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

Finding disease variants in Mendelian disorders by using sequence data: methods and applications.PMID 22137099Read ↗

Calculating the statistical significance of rare variants causal for Mendelian and complex disordersSemantic proximity Read ↗

Effective variant filtering and expected candidate variant yield in studies of rare human diseaseSemantic proximity Read ↗

Settling the score: variant prioritization and Mendelian disease.Semantic proximity Read ↗

Statistics to prioritize rare variants in family-based sequencing studies with disease subtypesSemantic proximity Read ↗

Statistics to prioritize rare variants in family-based sequencing studies with disease subtypes.Semantic proximity Read ↗

A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein.Semantic proximity Read ↗

Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.Semantic proximity Read ↗

A population-based approach for gene prioritization in understanding complex traits.Semantic proximity Read ↗

Discovery of rare variants via sequencing: implications for the design of complex trait association studies.Semantic proximity Read ↗

Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.Semantic proximity Read ↗

Empirically determined baseline masking strategies and other considerations for gene-level burden tests.Semantic proximity Read ↗

A power-based sliding window approach to evaluate the clinical impact of rare genetic variantsSemantic proximity Read ↗

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