Publications
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Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 ;.
. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 ;.
. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. . . . . Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;.
. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Hum Mol Genet. 2024 ;.
. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Hum Mol Genet. 2024 ;.
. Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv. 2024 ;.
. Comprehensive single-cell atlas of the mouse retina. bioRxiv. 2024 ;.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. 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.
. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 ;.
. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.
. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Genetic Variation Between Small Bowel and Colon-Predominant Crohn Disease. Cell Mol Gastroenterol Hepatol. 2024 ;.
. Genetic Variation Between Small Bowel and Colon-Predominant Crohn Disease. Cell Mol Gastroenterol Hepatol. 2024 ;.
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