Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Research graph
References from Calling Variants in the Clinic: Informed Variant Calling Decisions Based on Biological, Clinical, and Laboratory Variables. Local targets link to admitted publications; unresolved targets remain external evidence.
10.18632/oncotarget.22372
10.18632/oncotarget.22372 · External reference
10.1371/journal.pone.0186175
10.1371/journal.pone.0186175 · External reference
Germline mutation contribution to chromosomal instability
10.1530/erc-17-0062 · 2017 · External reference
Comparison of accuracy of whole-exome sequencing with formalin-fixed paraffin-embedded and fresh frozen tissue samples
10.1371/journal.pone.0144162 · 2015 · External reference
10.1093/bib/bbv029
10.1093/bib/bbv029 · External reference
10.1016/j.csbj.2018.01.003
10.1016/j.csbj.2018.01.003 · External reference
10.1038/ng.806
10.1038/ng.806 · External reference
10.1101/gr.078212.108
10.1101/gr.078212.108 · External reference
10.1093/bioinformatics/btp352
10.1093/bioinformatics/btp352 · External reference
10.1038/nbt.2514
10.1038/nbt.2514 · External reference
10.1093/nar/gkw227
10.1093/nar/gkw227 · External reference
10.1101/gr.129684.111
10.1101/gr.129684.111 · External reference
10.1093/nar/gks918
10.1093/nar/gks918 · External reference
Germline findings in tumor-only sequencing: points to consider for clinicians and laboratories
10.1093/jnci/djv351 · 2016 · External reference
Personalized genomic analyses for cancer mutation discovery and interpretation
10.1126/scitranslmed.aaa7161 · 2015 · External reference
10.7717/peerj.2074
10.7717/peerj.2074 · External reference
Detecting very low allele fraction variants using targeted DNA sequencing and a novel molecular barcode-aware variant caller
10.1186/s12864-016-3425-4 · 2017 · External reference
smCounter2: an accurate low-frequency variant caller for targeted sequencing data with unique molecular identifiers
10.1101/281659 · 2018 · External reference
Reducing amplification artifacts in high multiplex amplicon sequencing by using molecular barcodes
10.1186/s12864-015-1806-8 · 2015 · External reference
10.1038/nbt.3520
10.1038/nbt.3520 · External reference
10.1038/nbt.2835
10.1038/nbt.2835 · External reference
Systematic comparison of variant calling pipelines using gold standard personal exome variants
10.1038/srep17875 · 2015 · External reference
A comparison of variant calling pipelines using genome in a bottle as a reference
10.1155/2015/456479 · 2015 · External reference
Toward better benchmarking: challenge-based methods assessment in cancer genomics
10.1186/s13059-014-0462-7 · 2014 · External reference
10.1038/ng.2932
10.1038/ng.2932 · External reference
Best practices for benchmarking germline small variant calls in human genomes
2019 · External reference
10.1186/s12864-017-3770-y
10.1186/s12864-017-3770-y · External reference
10.1093/bioinformatics/btr509
10.1093/bioinformatics/btr509 · External reference
10.1093/bib/bbq013
10.1093/bib/bbq013 · External reference
JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data
10.1093/bioinformatics/bts053 · 2012 · External reference
10.1093/bioinformatics/bts271
10.1093/bioinformatics/bts271 · External reference
10.1038/s41592-018-0051-x
10.1038/s41592-018-0051-x · External reference
SNVSniffer: an integrated caller for germline and somatic single-nucleotide and indel mutations
10.1186/s12918-016-0300-5 · 2016 · External reference
10.1093/nar/gkt126
10.1093/nar/gkt126 · External reference
A method to reduce ancestry related germline false positives in tumor only somatic variant calling
10.1186/s12920-017-0296-8 · 2017 · External reference
10.1093/nar/29.1.308
10.1093/nar/29.1.308 · External reference
Aspects of modern biobank activity - comprehensive review
10.1007/s12253-018-0418-4 · 2018 · External reference
Biomedical analysis of formalin-fixed, paraffin-embedded tissue samples: the holy grail for molecular diagnostics
10.1016/j.jpba.2018.03.065 · 2018 · External reference
gDNA extraction yield and methylation status of blood samples are affected by long-term storage conditions
10.1371/journal.pone.0192414 · 2018 · External reference
10.1038/ng.3036
10.1038/ng.3036 · External reference
Correcting nucleotide-specific biases in high-throughput sequencing data
10.1186/s12859-017-1766-x · 2017 · External reference
10.1186/gb-2011-12-2-r18
10.1186/gb-2011-12-2-r18 · External reference
Bias in whole genome amplification: causes and considerations
10.1007/978-1-4939-2990-0_2 · 2015 · External reference
10.1073/pnas.1707609114
10.1073/pnas.1707609114 · External reference
10.1371/journal.pcbi.1005480
10.1371/journal.pcbi.1005480 · External reference
Unresolved reference
2015 · External reference
Benefits and challenges with applying unique molecular identifiers in next generation sequencing to detect low frequency mutations
10.1371/journal.pone.0146638 · 2016 · External reference
Unresolved reference
2019 · External reference
New insights into the performance of human whole-exome capture platforms
10.1093/nar/gkv216 · 2015 · External reference
Unresolved reference
2017 · External reference
Variant detection sensitivity and biases in whole genome and exome sequencing
10.1186/1471-2105-15-247 · 2014 · External reference
10.1186/s12864-018-4703-0
10.1186/s12864-018-4703-0 · External reference
Unresolved reference
2017 · External reference
10.1038/s41467-018-05083-x
10.1038/s41467-018-05083-x · External reference
10.1038/nmeth.4666
10.1038/nmeth.4666 · External reference
A universal analysis pipeline of hybrid capture-based targeted sequencing data with unique molecular indexes (UMIs)
10.5808/gi.2018.16.4.e29 · 2018 · External reference
10.1073/pnas.1110064108
10.1073/pnas.1110064108 · External reference
10.1073/pnas.1208715109
10.1073/pnas.1208715109 · External reference
10.1016/j.molcel.2015.05.004
10.1016/j.molcel.2015.05.004 · External reference
10.1186/gb-2013-14-5-r51
10.1186/gb-2013-14-5-r51 · External reference
10.1038/nrg.2016.49
10.1038/nrg.2016.49 · External reference
10.5858/arpa.2016-0501-ra
10.5858/arpa.2016-0501-ra · External reference
10.1038/nature07517
10.1038/nature07517 · External reference
10.1093/nar/gky296
10.1093/nar/gky296 · External reference
10.1128/aem.02206-14
10.1128/aem.02206-14 · External reference
HapMuC: somatic mutation calling using heterozygous germ line variants near candidate mutations
10.1093/bioinformatics/btu537 · 2014 · External reference
10.1126/science.1162986
10.1126/science.1162986 · External reference
Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing
10.2217/pgs-2017-0033 · 2017 · External reference
10.1093/bioinformatics/btw811
10.1093/bioinformatics/btw811 · External reference
Unresolved reference
2019 · External reference
10.1038/nbt.3238
10.1038/nbt.3238 · External reference
10.1093/bioinformatics/btw152
10.1093/bioinformatics/btw152 · External reference
Nanopore sequencing data analysis: state of the art, applications and challenges
2017 · External reference
10.1016/j.trecan.2016.02.001
10.1016/j.trecan.2016.02.001 · External reference
Accurate and sensitive analysis of minimal residual disease in acute myeloid leukemia using deep sequencing of single nucleotide variations
10.1016/j.jmoldx.2018.08.004 · 2018 · External reference
Minimal residual disease negativity using deep sequencing is a major prognostic factor in multiple myeloma
10.1182/blood-2018-06-858613 · 2018 · External reference
New molecular technologies for minimal residual disease evaluation in B-cell lymphoid malignancies
10.3390/jcm7090288 · 2018 · External reference
10.1002/ijc.30620
10.1002/ijc.30620 · External reference
In silico error correction improves cfDNA mutation calling
2018 · External reference
The characteristics of ctDNA reveal the high complexity in matching the corresponding tumor tissues
10.1186/s12885-018-4199-7 · 2018 · External reference
10.1093/dnares/dsv010
10.1093/dnares/dsv010 · External reference
10.1093/bioinformatics/btw536
10.1093/bioinformatics/btw536 · External reference
Cancer cytogenetics: an introduction
10.1007/978-1-4939-6703-2_1 · 2017 · External reference
Chromosome imbalances in cancer: molecular cytogenetics meets genomics
10.1159/000455804 · 2016 · External reference
Patterns of chromosomal aberrations in solid tumors
10.1007/978-3-319-20291-4_6 · 2015 · External reference
10.1016/j.hoc.2009.07.001
10.1016/j.hoc.2009.07.001 · External reference
10.1038/nrclinonc.2017.198
10.1038/nrclinonc.2017.198 · External reference
A novel integrated cytogenetic and genomic classification refines risk stratification in pediatric acute lymphoblastic leukemia
10.1182/blood-2014-03-562918 · 2014 · External reference
Mutations and karyotype predict treatment response in myelodysplastic syndromes
10.1002/ajh.25267 · 2018 · External reference
10.1007/s00018-018-2891-z
10.1007/s00018-018-2891-z · External reference
10.1182/blood-2008-07-077958
10.1182/blood-2008-07-077958 · External reference
10.1182/blood-2007-03-066936
10.1182/blood-2007-03-066936 · External reference
10.1093/bioinformatics/btp373
10.1093/bioinformatics/btp373 · External reference
10.1093/bioinformatics/btr665
10.1093/bioinformatics/btr665 · External reference
10.1186/s13059-015-0758-2
10.1186/s13059-015-0758-2 · External reference
10.1093/bioinformatics/btq040
10.1093/bioinformatics/btq040 · External reference
Unresolved reference
External reference
10.1186/1471-2164-14-302
10.1186/1471-2164-14-302 · External reference
10.1038/nrc3655
10.1038/nrc3655 · External reference
10.1038/nature12213
10.1038/nature12213 · External reference
Pediatric acute myeloid leukemia: biology and therapeutic implications of genomic variants
10.1016/j.pcl.2014.09.007 · 2015 · External reference
10.1038/nature13379
10.1038/nature13379 · External reference
10.1016/j.celrep.2014.03.003
10.1016/j.celrep.2014.03.003 · External reference
Genomic features and clinical management of patients with hereditary pancreatic cancer syndromes and familial pancreatic cancer
10.3390/ijms20030561 · 2019 · External reference
10.1016/j.ogc.2018.09.003
10.1016/j.ogc.2018.09.003 · External reference
Associations between cancer predisposition testing panel genes and breast cancer
10.1001/jamaoncol.2017.0424 · 2017 · External reference
Lynch syndrome and lynch syndrome mimics: the growing complex landscape of hereditary colon cancer
10.3748/wjg.v21.i31.9253 · 2015 · External reference
10.1097/pap.0000000000000177
10.1097/pap.0000000000000177 · External reference
Pisces: an accurate and versatile variant caller for somatic and germline next-generation sequencing data
10.1101/291641 · 2018 · External reference
Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC science impact framework
10.1038/s41436-018-0028-2 · 2019 · External reference
BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity
10.1186/1471-2105-15-104 · 2014 · External reference
Unresolved reference
2014 · External reference
10.1038/ncomms1814
10.1038/ncomms1814 · External reference
FaSD-somatic: a fast and accurate somatic SNV detection algorithm for cancer genome sequencing data
10.1093/bioinformatics/btu338 · 2014 · External reference
Unresolved reference
2012 · External reference
10.1093/nar/gkv953
10.1093/nar/gkv953 · External reference
LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples
10.18632/oncotarget.16144 · 2017 · External reference
10.1093/bioinformatics/btr629
10.1093/bioinformatics/btr629 · External reference
10.1186/s13059-016-1029-6
10.1186/s13059-016-1029-6 · External reference
Somatic point mutation calling in low cellularity tumors
10.1371/journal.pone.0074380 · 2013 · External reference
10.1371/journal.pone.0111516
10.1371/journal.pone.0111516 · External reference
Shimmer: detection of genetic alterations in tumors using next-generation sequence data
10.1093/bioinformatics/btt183 · 2013 · External reference
10.1186/s12864-016-3281-2
10.1186/s12864-016-3281-2 · External reference
10.1186/gb-2013-14-8-r90
10.1186/gb-2013-14-8-r90 · External reference
10.1186/s13073-017-0446-9
10.1186/s13073-017-0446-9 · External reference
10.18632/oncotarget.13103
10.18632/oncotarget.13103 · External reference
De novo sequencing and variant calling with nanopores using PoreSeq
10.1038/nbt.3360 · 2015 · External reference
10.1093/nar/gkr599
10.1093/nar/gkr599 · External reference
SomVarIUS: somatic variant identification from unpaired tissue samples
10.1093/bioinformatics/btv685 · 2016 · External reference
10.1101/gr.109157.110
10.1101/gr.109157.110 · External reference