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Ming Yin Lun

Showing results (1-10 of 13) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Investigation of a Pathogenic Inversion in <i>UNC13D</i> and Comprehensive Analysis of Chromosomal Inversions Across Diverse DatasetsTugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
European Journal of Human Genetics : EJHG|February 28, 2025
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasetsTugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
Medrxiv : the Preprint Server for Health Sciences|August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics HackathonMing Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
American Journal of Medical Genetics. Part A|April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection PipelineKatherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
Biorxiv : the Preprint Server for Biology|August 6, 2025
Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamicsChaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, et al.
Biorxiv : the Preprint Server for Biology|November 18, 2024
VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing dataHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Genome Medicine|December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Investigation of a Pathogenic Inversion in <i>UNC13D</i> and Comprehensive Analysis of Chromosomal Inversions Across Diverse DatasetsTugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
European Journal of Human Genetics : EJHG|February 28, 2025
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasetsTugce Bozkurt-Yozgatli, Ming Yin Lun, Jesse D Bengtsson, et al.
Medrxiv : the Preprint Server for Health Sciences|August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics HackathonMing Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
American Journal of Medical Genetics. Part A|April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection PipelineKatherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
Biorxiv : the Preprint Server for Biology|August 6, 2025
Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamicsChaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, et al.
Biorxiv : the Preprint Server for Biology|November 18, 2024
VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing dataHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Genome Medicine|December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Pageof 2