Peining Li, PhD
Professor of GeneticsDownloadHi-Res Photo
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Genetics
Primary
Additional Titles
Co-Director, Fellowship in Laboratory Genetics and Genomics
Director, Cytogenetics Lab
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Appointments
Genetics
Primary
Additional Titles
Co-Director, Fellowship in Laboratory Genetics and Genomics
Director, Cytogenetics Lab
Contact Info
Appointments
Genetics
Primary
Additional Titles
Co-Director, Fellowship in Laboratory Genetics and Genomics
Director, Cytogenetics Lab
Contact Info
About
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Titles
Professor of Genetics
Co-Director, Fellowship in Laboratory Genetics and Genomics; Director, Cytogenetics Lab
Biography
The research activities in my laboratory focuses on the structural and functional characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, and next-generation sequencing have been used. We have performed high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals are to identify disease-causing genes or bio-markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms.
Last Updated on April 07, 2025.
Appointments
Genetics
ProfessorPrimary
Other Departments & Organizations
Education & Training
- Postdoc Fellow, Clinical Cytogenetics
- Yale School of Medicine (2003)
- Postdoc Fellow, Clinical Molecular Genetics
- University of Alabama at Birmingham (1999)
- PhD
- University of Alabama at Birmingham (1996)
Research
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Overview
Medical Research Interests
Chromosome Aberrations; Cytogenetics; Genetics
ORCID
0000-0003-4746-4905- View Lab Website
Cytogenetics
Research at a Glance
Yale Co-Authors
Frequent collaborators of Peining Li's published research.
Publications Timeline
A big-picture view of Peining Li's research output by year.
Research Interests
Research topics Peining Li is interested in exploring.
Jia Di Wen, MD, PhD, FACMG
Hongyan Chai
Yong-Hui Jiang, MD, PhD
Allen Bale, MD
Katherine Wilcox
Michele Spencer-Manzon, MD
95Publications
2,056Citations
Chromosome Aberrations
Publications
2026
Genotype–Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing
Sheth F, Shah J, Muranjan M, Liehr T, Padutsch N, Mane S, Ng S, Li P, Desai M, Kansara H, Sheth J, Sheth H. Genotype–Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing. American Journal Of Medical Genetics Part A 2026 PMID: 41755742, DOI: 10.1002/ajmg.a.70105.Peer-Reviewed Original ResearchConceptsLong-read sequencingGenotype-phenotype correlationBreakpoint characterizationChromosomal microarrayLong-read whole-genome sequencingBalanced complex chromosomal rearrangementsProtein-coding genesDisruption of transcriptionWhole-genome sequencingComplex chromosomal rearrangementsIntellectual disability phenotypeNonsense mediated decayAdvanced genomic technologiesGenomic consequencesGenome sequenceChromosomal rearrangementsGene disruptionRead sequencesGenomic technologiesNLGN4X geneCytogenetic techniquesChromosome involvementDisability phenotypeGene fusionsGenotype-phenotypeConcomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang Y, Wen J, Bale A, Li P, Zhang H. Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. Case Reports In Genetics 2026, 2026: 4494577. PMID: 41624216, PMCID: PMC12855162, DOI: 10.1155/crig/4494577.Peer-Reviewed Original ResearchConceptsChromosomal microarray analysisExome sequencingCompound phenotypeTrisomy 8 mosaicismPathogenic variantsPhenotypic constellationCopy number imbalancesGenomic copy number imbalancesMosaic pathogenic variantMolecular aberrationsT8MTurner syndromePathogenic gene variantsGenomic analysisConstellation of malformationsPhenotype of Turner syndromeMicroarray analysisChromosomal mosaicismPhenotypic abnormalitiesMolecular defectsGene variantsGenetic aberrationsVariable phenotypeMonosomy XTrisomy 8P618: Diagnostic findings of cytogenomic abnormalities in human sex chromosomes from postnatal consecutive cases
Wang Q, Diadamo A, Chai H, Serrano T, Bale A, Spencer-Manzon M, Jiang Y, Li P, Zhang H, Wen J. P618: Diagnostic findings of cytogenomic abnormalities in human sex chromosomes from postnatal consecutive cases. Genetics In Medicine Open 2026, 4: 104108. DOI: 10.1016/j.gimo.2026.104108.Peer-Reviewed Original Research
2025
38. Decoding the genetic complexity of B-ALL through long-read and RNA sequencing methods
Wen J, Chong M, Ng E, Chai H, Diadamo A, Flagg A, Li P. 38. Decoding the genetic complexity of B-ALL through long-read and RNA sequencing methods. Cancer Genetics 2025, 298: s17-s18. DOI: 10.1016/j.cancergen.2025.10.042.Peer-Reviewed Original ResearchConceptsLong-read sequencingB-cell acute lymphoblastic leukemiaFluorescence in situ hybridizationNUP214-ABL1Children's Oncology GroupStructural variantsGenetic complexityGene fusionsComplex genomic rearrangementsGenome-wide analysisRNA sequencing methodsConventional cytogenetic analysisComplex genomic landscapeDiagnosis of B-lymphoblastic leukemiaNUP214-ABL1 fusionTyrosine kinase inhibitor therapyLong readsGenomic rearrangementsKinase inhibitor therapyPediatric B-ALL casesB-ALL patientsCryptic rearrangementsB-lymphoblastic leukemiaB-ALL casesSequencing approachClinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis
Hao Y, Geng Q, Li X, Yang J, Liu Y, Huang Q, Xu Y, Li P, Xie J, Wu W, Wu B, Liu W. Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis. Human Genetics And Genomics Advances 2025, 7: 100549. PMID: 41267400, PMCID: PMC12903083, DOI: 10.1016/j.xhgg.2025.100549.Peer-Reviewed Original ResearchAltmetricConceptsChromosomal microarray analysisPathogenic copy-number variantsPrenatal chromosomal microarray analysisExome sequencingROH detectionMS-MLPAMicroarray analysisMultiplex ligation-dependent probe amplificationCopy-number variantsLigation-dependent probe amplificationMethylation-specific multiplex ligation-dependent probe amplificationCell-free DNAClinical significancePathogenic homozygous variantGenetic analysisProbe amplificationAutosomal-recessive disorderPrenatal genetic analysisHomozygous variantGenetic counselingPositive predictive valuePrenatal settingPrenatal casesUltrasound anomaliesDiagnostic yieldDecoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing
Chong M, Ng S, Chai H, Diadamo A, Flagg A, Owen N, Li P, Wen J. Decoding the genetic complexity in a pediatric case of B-ALL through long-read genomic sequencing and RNA sequencing. Cancer Genetics 2025, 298: 274-279. PMID: 41232304, PMCID: PMC12666982, DOI: 10.1016/j.cancergen.2025.11.002.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsLong-read genome sequencingB-cell acute lymphoblastic leukemiaGenome sequenceRNA sequencingTyrosine kinase inhibitorsGenetic alterationsCopy number aberrationsChromosomal microarray analysisPediatric casesHigh-risk B-cell acute lymphoblastic leukemiaCases of B-cell acute lymphoblastic leukemiaTCRB locusOncogenic gene fusionsSequencing approachClinically actionable targetsGenetic complexityABL1 genePartial deletionCytogenetic methodsGene fusionsAcute lymphoblastic leukemiaMicroarray analysisHeterogeneous hematologic malignancyABL1 fusionsSequencePrognostic impact of cytogenetic abnormalities in aggressive T-cell lymphomas: Defining high-risk subgroups through conventional karyotyping.
Kiwan A, Diadamo A, Wen J, Kewan T, Siddon A, Kothari S, Isufi I, Seropian S, Huntington S, Montanari F, Xu M, Li P, Girardi M, Sethi T, Foss F. Prognostic impact of cytogenetic abnormalities in aggressive T-cell lymphomas: Defining high-risk subgroups through conventional karyotyping. Blood 2025, 146: 1759-1759. DOI: 10.1182/blood-2025-1759.Peer-Reviewed Original ResearchConceptsT-cell lymphomaMature T-cell lymphomasAggressive T-cell lymphomaUnivariate Cox proportional hazardsMonosomy 9Overall survivalPeripheral bloodMonosomy 5Nodal PTCLBone marrowHigh-risk subgroupsPrognostic significancePlatelet countCox proportional hazardsCytogenetic abnormalitiesPrognostic impactComplex karyotypeT cellsMarker chromosomesPrognostic impact of cytogenetic abnormalitiesPredictor of poor OSImpact of cytogenetic abnormalitiesMultivariate CPH modelChromosomal lesionsPresence of marker chromosomesUnravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing
Chong M, Burssed B, Chen Z, Wen J, Ng E, Szewczyk B, Wang G, Chua K, Liehr T, Zou Y, Murry J, Sheth F, Li P, Melaragno M. Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing. Genetics In Medicine Open 2025, 103475. DOI: 10.1016/j.gimo.2025.103475.Peer-Reviewed Original ResearchConceptsLong-read genome sequencingShort-read genome sequencingMicrohomology-mediated break-induced replicationCopy number variantsMicrohomology-mediated end joiningNon-Homologous End JoiningGenome sequenceRing chromosomesEnd joiningTelomere-to-telomereNucleotide-level resolutionSingle-copy sequencesBreak-induced replicationLoss of euchromatinReference genomeShort readsGenomic rearrangementsRepetitive sequencesTelomeric regionsChromosome structureCell cycleChromosomal instabilitySequenceGenomeChromosomeLoss of D expression associated with hematologic disease progression: a case report and review of the literature
Yurtsever N, Carmichael G, Li P, Di Wen J, Chai H, Diadamo A, Denomme G, Tormey C. Loss of D expression associated with hematologic disease progression: a case report and review of the literature. Immunohematology 2025, 41: 80-83. PMID: 41168989, DOI: 10.2478/immunohematology-2025-012.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsStem cell transplantationPatient's red blood cellsMyelodysplastic syndromeCell transplantationRed blood cellsPolymerase chain reactionPre-B acute lymphocytic leukemiaColon cancerGroup AAllogeneic stem cell transplantationHigh-risk myelodysplastic syndromeInitiation of immunosuppressive therapyDiagnosis of myelodysplastic syndromeChromosomal microarrayAcute lymphocytic leukemiaSanger sequencingFemale cellsPartial D variantsGene expressionImmunosuppressive therapyLymphocytic leukemiaD phenotypeMale patientsCase reportAnti-D reagentsCopy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
Li W, Xie X, Chai H, DiAdamo A, Bistline E, Li P, Dai Y, Knight J, Avni-Singer A, Burger J, Ment L, Spencer-Manzon M, Zhang H, Wen J. Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing. Genes 2025, 16: 874. PMID: 40869922, PMCID: PMC12385847, DOI: 10.3390/genes16080874.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsWhole-genome sequencingChromosomal microarray analysisCopy number variantsGenome sequenceMicroarray analysisCausative genetic variantsDiagnostic valueClinical cytogenetics laboratoryPediatric casesConsecutive pediatric casesConsecutive pediatric patientsPathogenic CNVsGenetic variantsBenign CNVsGenetic counselorsClinical geneticistsRate of reclassificationLaboratory reevaluationCytogenetic laboratoriesPediatric patientsChromosomeClinical impactSequenceVariantsCopy
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