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

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.

Annual review of genomics and human genetics - 31 Aug 2017

Chakravorty Samya, Hegde Madhuri

Abstract excerpt

Comprehensive annotations of genetic and noncoding regions and corresponding accurate variant classification for Mendelian diseases are the next big challenge in the new genomic era of personalized medicine. Progress in the development of faster and more accurate pipelines for genome annotation and variant classification will lead to the discovery of more novel disease associations and candidate therapeutic...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Diseases, Inborn
Share to Genetic Testing
Share to Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Molecular Sequence Annotation

Share to Precision Medicine

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 28415856
DOI: 10.1146/annurev-genom-083115-022545

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

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.PMID 28415856Read ↗

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

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Semantic proximity Read ↗

Databases of genomic variation and phenotypes: existing resources and future needs.Semantic proximity Read ↗

Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Semantic proximity Read ↗

Inferring the effect of genomic variation in the new era of genomics.Semantic proximity Read ↗

The large-scale whole-genome sequencing era expedited medical discovery and clinical translationSemantic proximity Read ↗

Centers for Mendelian Genomics: A decade of facilitating gene discovery.Semantic proximity Read ↗

Centers for Mendelian Genomics: A decade of facilitating gene discoverySemantic proximity Read ↗

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.Semantic proximity Read ↗

Using Full Genomic Information to Predict Disease: Breaking Down the Barriers Between Complex and Mendelian Diseases.Semantic proximity Read ↗

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologiesSemantic proximity Read ↗

Annotating DNA variants is the next major goal for human genetics.Semantic proximity Read ↗

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