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

Comprehensive variant discovery in the era of complete human reference genomes.

Nature methods - 1 Jan 2023

Cechova Monika, Miga Karen H

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Genetic Variation
Share to Genome, Human

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36635553
DOI: 10.1038/s41592-022-01740-8
PMCID: PMC10506630

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive variant discovery in the era of complete human reference genomes.PMID 36635553Read ↗

Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts.Semantic proximity Read ↗

The variant catalogue pipeline: A workflow to generate a background variant library from Whole Genome SequencesSemantic proximity Read ↗

Genomes in a bottle: creating standard reference materials for genomic variation - why, what and how?Semantic proximity Read ↗

Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods.Semantic proximity Read ↗

Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society.Semantic proximity Read ↗

The U.S. FDA focuses on next-generation sequencing: Draft guidance proposals address potential standards for demonstrating analytical validity and criteria for FDA-recognized genetic variant databases.Semantic proximity Read ↗

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

A global reference for human genetic variation.Semantic proximity Read ↗

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

Finding the Rare Pathogenic Variants in a Human Genome.Semantic proximity Read ↗

Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation.Semantic proximity Read ↗

A 25-year odyssey of genomic technology advances and structural variant discovery.Semantic proximity Read ↗

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