Publications
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Analysis and benchmarking of small and large genomic variants across tandem repeats. Nat Biotechnol. 2024 ;.
. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 ;.
. . Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 ;147(4):1436-1456.
. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 ;26(3):101034.
. . The CARD8 inflammasome dictates HIV/SIV pathogenesis and disease progression. Cell. 2024 ;187(5):1223-1237.e16.
. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;.
. . Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 ;.
. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Hum Mol Genet. 2024 ;.
. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).
. Complete Genomic Assembly of Mauritian Cynomolgus Macaque Killer Ig-like Receptor and Natural Killer Group 2 Haplotypes. J Immunol. 2024 ;.
. Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv. 2024 ;.
. Comprehensive single-cell atlas of the mouse retina. bioRxiv. 2024 ;.
. Core planar cell polarity genes and in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 ;121(18):e2310283121.
. Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample. Sci Rep. 2024 ;14(1):6385.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. Dietary Folate and Cofactors Accelerate Age-dependent p16 Epimutation to Promote Intestinal Tumorigenesis. Cancer Res Commun. 2024 ;4(1):164-169.
. Empowering personalized pharmacogenomics with generative AI solutions. J Am Med Inform Assoc. 2024 ;.
. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 ;.
. FAIR Header Reference genome: a TRUSTworthy standard. Brief Bioinform. 2024 ;25(3).
. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.
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