Peining Li, PhD

Associate Professor of Genetics

Research Organizations

Cancer Center, Yale: Cancer Genetics & Genomics

Research Summary

Chromosome abnormalities have been common causes for human embryonic failure, fetus anomalies, developmental delay, mental retardation, behavior disorders, cancer initiation and progression. My lab has provided clinical diagnosis and genetic screening for patients suspected with chromosomal abnormalities and genomic defects. Molecular methods such as BAC-clone fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, SNP genotyping, and sequencing analysis of gene mutations have been used to delineate recognized chromosomal abnormalities. We have validated high through-put genome-wide oligonucleotide microarray analysis for clinical diagnosis of submicroscopic deletions/duplications and for mapping rearrangement breakpoints. We are initiating functional analysis using biochemical and genetic approaches on model animals. The goals of this laboratory are to identify disease-causing genes or genetic markers of diagnostic and prognostic values, to dissect underlying molecular mechanisms, and to develop diagnostic and therapeutic approaches for patients with chromosomal and genomic aberrations.

Selected Publications

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Contact Info

Peining Li, PhD
Patient Care Location
Cytogenetics LabWinchester Building
25 York Street, Ste Suite 333

New Haven, CT 06511
Mailing Address
Department of GeneticsPO Box 208005
333 Cedar Street

New Haven, CT 06520-8005

Cytogenetics