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

Genetics, genomics, and their relevance to pathology and therapy.

Best practice & research. Clinical rheumatology - 1 Apr 2014

Ombrello Michael J, Sikora Keith A, Kastner Daniel L

Abstract excerpt

Genetic and genomic investigations are a starting point for the study of human disease, seeking to discover causative variants relevant to disease pathophysiology. Over the past 5 years, massively parallel, high-throughput, next-generation sequencing techniques have revolutionized genetics and genomics, identifying the causes of many Mendelian diseases. The application of whole-genome sequencing and whole-exome...

Read the complete abstract on PubMed

Topics

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

Share to Genome-Wide Association Study
Share to Genomics
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mendelian Randomization Analysis

Share to Mutation

Share to Rheumatic Diseases

Share to Sequence Analysis, DNA

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 24974057
DOI: 10.1016/j.berh.2014.05.001
PMCID: PMC4149217

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

Genetics, genomics, and their relevance to pathology and therapy.PMID 24974057Read ↗

Clinical applications of molecular genetic discoveries.Semantic proximity Read ↗

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Semantic proximity Read ↗

Genetics and genomics to the clinic: a long road ahead.Semantic proximity Read ↗

Genome sequencing in the clinic: the past, present, and future of genomic medicineSemantic proximity Read ↗

Interpreting noncoding genetic variation in complex traits and human disease.Semantic proximity Read ↗

Insights into genetics, human biology and disease gleaned from family based genomic studies.Semantic proximity Read ↗

The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Semantic proximity Read ↗

Genetics. A genomic road map for complex human disease.Semantic proximity Read ↗

A brief history of human disease genetics.Semantic proximity Read ↗

Genetics meets pathology - an increasingly important relationship.Semantic proximity Read ↗

Exploring noncoding variants in genetic diseases: from detection to functional insights.Semantic proximity Read ↗

Genetics, Genomics, and Precision Medicine.Semantic proximity Read ↗

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