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

Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature communications - 9 Nov 2017

Shin Hyun-Tae, Choi Yoon-La, Yun Jae Won, Kim Nayoung K D, Kim Sook-Young, Jeon Hyo Jeong, Nam Jae-Yong, Lee Chung, Ryu Daeun, Kim Sang Cheol, Park Kyunghee, Lee Eunjin, Bae Joon Seol, Son Dae Soon, Joung Je-Gun, Lee Jeeyun, Kim Seung Tae, Ahn Myung-Ju, Lee Se-Hoon, Ahn Jin Seok, Lee Woo Yong, Oh Bo Young, Park Yeon Hee, Lee Jeong Eon, Lee Kwang Hyuk, Kim Hee Cheol, Kim Kyoung-Mee, Im Young-Hyuck, Park Keunchil, Park Peter J, Park Woong-Yang

Abstract excerpt

Accurate detection of genomic alterations using high-throughput sequencing is an essential component of precision cancer medicine. We characterize the variant allele fractions (VAFs) of somatic single nucleotide variants and indels across 5095 clinical samples profiled using a custom panel, CancerSCAN. Our results demonstrate that a significant fraction of clinically actionable variants have low VAFs, often due...

Read the complete abstract on PubMed

Topics

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

Share to Class I Phosphatidylinositol 3-Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ErbB Receptors

Share to High-Throughput Nucleotide Sequencing

Share to Limit of Detection

Share to Molecular Targeted Therapy

Share to Prevalence

Share to Proto-Oncogene Proteins B-raf

Share to Proto-Oncogene Proteins p21(ras)

Source

Open in PubMed Open full text

Identifiers

PMID: 29123093
DOI: 10.1038/s41467-017-01470-y
PMCID: PMC5680209

Genes

EGFR
BRAF
KRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence and detection of low-allele-fraction variants in clinical cancer samples.PMID 29123093Read ↗

Tissue-based genomic profiling of 300,000 tumors highlights the detection of variants with low allele fractionSemantic proximity Read ↗

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataSemantic proximity Read ↗

Accurately identifying low-allelic fraction variants in single samples with next-generation sequencing: applications in tumor subclone resolution.Semantic proximity Read ↗

Validation of a next-generation sequencing assay for clinical molecular oncology.Semantic proximity Read ↗

Enhanced specificity of high sensitivity somatic variant profiling in cell-free DNA via paired normal sequencing: design, validation, and clinical experience of the MSK-ACCESS liquid biopsy assaySemantic proximity Read ↗

LoLoPicker: Detecting Low Allelic-Fraction Variants in Low-Quality Cancer SamplesSemantic proximity Read ↗

Clinical Application of a Cancer Genomic Profiling Assay to Guide Precision Medicine DecisionsSemantic proximity Read ↗

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractionsSemantic proximity Read ↗

RareVar: A Framework for Detecting Low-Frequency Single-Nucleotide Variants.Semantic proximity Read ↗

LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples.Semantic proximity Read ↗

Enhanced specificity of high sensitivity somatic variant profiling in cell-free DNA via paired normal sequencing: design, validation, and clinical experience of the MSK-ACCESS liquid biopsy assaySemantic proximity Read ↗

Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing.Semantic proximity Read ↗

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