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

Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2013

Zhang Yu, Su Helen C

Abstract excerpt

Massively parallel sequencing technologies provide new opportunities to discover causal variants and -narrow down candidate genes responsible for human Mendelian disorders. Such information can in turn provide new insights into understanding the basic science behind, as well as improving diagnosis and treatment for, these disorders. In this chapter, we review experimental design and data analysis for sequencing...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immune System Diseases

Share to Inheritance Patterns

Share to Mutation

Share to Statistics as Topic

Source

Identifiers

PMID: 23397396
DOI: 10.1007/978-1-62703-290-2_14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders.PMID 23397396Read ↗

Understanding the immunological impact of the human mutation explosion.Semantic proximity Read ↗

Next-generation sequencing for inborn errors of immunity.Semantic proximity Read ↗

Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease.Semantic proximity Read ↗

Detecting pathogenic variants in autoimmune diseases using high-throughput sequencing.Semantic proximity Read ↗

Whole exome sequencing in inborn errors of immunity: use the power but mind the limits.Semantic proximity Read ↗

Design considerations for massively parallel sequencing studies of complex human disease.Semantic proximity Read ↗

High-Throughput Sequencing of the Major Histocompatibility Complex following Targeted Sequence Capture.Semantic proximity Read ↗

Using genetic variation to study immunomodulation.Semantic proximity Read ↗

High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variationSemantic proximity Read ↗

Quality Control Procedures for High-Throughput Genetic Association Studies.Semantic proximity Read ↗

Novel Analysis Methods to Mine Immune-Mediated Phenotypes and Find Genetic Variation Within the Electronic Health Record (Roadmap for Phenotype to Genotype: Immunogenomics).Semantic proximity Read ↗

High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.Semantic proximity Read ↗

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