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Genetics and Genomics Research

Research Overview

Dr. Huang obtained his BS in Biological Science and PhD in Bioinformatics from Peking University, China. During his PhD studies, under the guidance of Dr. Liping Wei, he developed MosaicHunter, the first computational tool capable of systematically identifying somatic single-nucleotide variants from non-cancer whole-genome and exome sequencing data.

Dr. Huang then received his postdoctoral training with Drs. Christopher Walsh, Alice Lee, and Matthew Warman at Boston Children's Hospital and Harvard Medical School, where he pioneered in revealing the accumulation of somatic mutations in various tissue types and their contribution to many diseases including Alzheimer's disease, autism, and arteriovenous malformation.

In 2023, Dr. Huang opened his independent laboratory at the Division of Genetics and Genomics, Boston Children's Hospital, with a focus on utilizing computational genomic approaches to investigate the characteristics of somatic mutations in development and aging and their impact on human health. His research projects are being funded by NIH/NIA, NIH/NHLBI, Alzheimer's Association, and Boston Children’s Hospital​.

Publications

  1. Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia. bioRxiv. 2024 Jan 04. View Abstract
  2. Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. Neurol Genet. 2024 Feb; 10(1):e200117. View Abstract
  3. Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv. 2023 Dec 01. View Abstract
  4. Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex. bioRxiv. 2023 Nov 06. View Abstract
  5. Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA Neurol. 2023 06 01; 80(6):578-587. View Abstract
  6. Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. Nat Commun. 2022 10 07; 13(1):5918. View Abstract
  7. Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity. Nat Aging. 2022 08; 2(8):714-725. View Abstract
  8. Somatic genomic changes in single Alzheimer's disease neurons. Nature. 2022 04; 604(7907):714-722. View Abstract
  9. Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data. Front Aging. 2021; 2:800380. View Abstract
  10. SMAD4 represses FOSL1 expression and pancreatic cancer metastatic colonization. Cell Rep. 2021 07 27; 36(4):109443. View Abstract
  11. MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. BMC Med Genomics. 2021 Feb 12; 14(1):47. View Abstract
  12. MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals. Genomics Proteomics Bioinformatics. 2020 04; 18(2):140-149. View Abstract
  13. APP gene copy number changes reflect exogenous contamination. Nature. 2020 08; 584(7821):E20-E28. View Abstract
  14. Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain. Proc Natl Acad Sci U S A. 2020 06 23; 117(25):13886-13895. View Abstract
  15. Somatic mutations in intracranial arteriovenous malformations. PLoS One. 2019; 14(12):e0226852. View Abstract
  16. Arteriovenous malformation associated with a HRAS mutation. Hum Genet. 2019 Dec; 138(11-12):1419-1421. View Abstract
  17. Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals. PLoS Genet. 2019 04; 15(4):e1008043. View Abstract
  18. ATP1A3 mosaicism in families with alternating hemiplegia of childhood. Clin Genet. 2019 07; 96(1):43-52. View Abstract
  19. A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations. Genome Res. 2018 07; 28(7):943-951. View Abstract
  20. Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs. PLoS Genet. 2018 05; 14(5):e1007395. View Abstract
  21. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum. Clin Genet. 2018 05; 93(5):1075-1080. View Abstract
  22. AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. Database (Oxford). 2018 01 01; 2018. View Abstract
  23. Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort. Sci Rep. 2017 Nov 15; 7(1):15677. View Abstract
  24. MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples. Nucleic Acids Res. 2017 Jun 02; 45(10):e76. View Abstract
  25. Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations. Hum Mutat. 2017 08; 38(8):1002-1013. View Abstract
  26. Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis. Bone. 2017 Aug; 101:162-171. View Abstract
  27. Confocal imaging of mouse mandibular condyle cartilage. Sci Rep. 2017 03 07; 7:43848. View Abstract
  28. Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation. Am J Hum Genet. 2017 Mar 02; 100(3):546-554. View Abstract
  29. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. 2017 Aug; 20(3):303-306. View Abstract
  30. Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. Am J Hum Genet. 2016 Apr 07; 98(4):789-95. View Abstract
  31. Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation. Cell Calcium. 2016 05; 59(5):262-70. View Abstract
  32. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome. Hum Mutat. 2015 Sep; 36(9):861-72. View Abstract
  33. Profiling the RNA editomes of wild-type C. elegans and ADAR mutants. Genome Res. 2015 Jan; 25(1):66-75. View Abstract
  34. Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals. Cell Res. 2014 Nov; 24(11):1311-27. View Abstract
  35. Recent adaptive events in human brain revealed by meta-analysis of positively selected genes. PLoS One. 2013; 8(4):e61280. View Abstract
  36. AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res. 2012 Jan; 40(Database issue):D1016-22. View Abstract

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