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Dalia Kasperaviciute

Showing results (1-10 of 36) with videos related to

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Genome Biology|January 24, 2009
A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European AmericansAnna C Need, Dalia Kasperaviciute, Elizabeth T Cirulli, et al.
American Journal of Human Genetics|January 20, 2023
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencingXiao Chen, John Harting, Emily Farrow, et al.
Journal of Medical Genetics|April 29, 2026
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health ServiceJamie M Ellingford, Erik Waskiewicz, Ashley J Pritchard, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2013
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channelKin Y Mok, Susanne A Schneider, Daniah Trabzuni, et al.
Journal of Medical Genetics|April 19, 2020
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipelineJessica M Clarke, Mary Alikian, Sihao Xiao, et al.
International Journal of Neonatal Screening|July 27, 2022
Newborn Screening by Genomic Sequencing: Opportunities and ChallengesDavid Bick, Arzoo Ahmed, Dasha Deen, et al.
British Journal of Haematology|May 31, 2013
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemiaGareth Gerrard, Mikel Valgañón, Hui En Foong, et al.
The Journal of Molecular Diagnostics : JMD|February 10, 2016
Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia PatientsMary Alikian, Peter Ellery, Martin Forbes, et al.
Frontiers in Genetics|June 17, 2022
Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-designAmanda Pichini, Arzoo Ahmed, Christine Patch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemiaJana Vandrovcova, Ellen R A Thomas, Santosh S Atanur, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Genome Biology|January 24, 2009
A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European AmericansAnna C Need, Dalia Kasperaviciute, Elizabeth T Cirulli, et al.
American Journal of Human Genetics|January 20, 2023
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencingXiao Chen, John Harting, Emily Farrow, et al.
Journal of Medical Genetics|April 29, 2026
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health ServiceJamie M Ellingford, Erik Waskiewicz, Ashley J Pritchard, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2013
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channelKin Y Mok, Susanne A Schneider, Daniah Trabzuni, et al.
Journal of Medical Genetics|April 19, 2020
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipelineJessica M Clarke, Mary Alikian, Sihao Xiao, et al.
International Journal of Neonatal Screening|July 27, 2022
Newborn Screening by Genomic Sequencing: Opportunities and ChallengesDavid Bick, Arzoo Ahmed, Dasha Deen, et al.
British Journal of Haematology|May 31, 2013
Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemiaGareth Gerrard, Mikel Valgañón, Hui En Foong, et al.
The Journal of Molecular Diagnostics : JMD|February 10, 2016
Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia PatientsMary Alikian, Peter Ellery, Martin Forbes, et al.
Frontiers in Genetics|June 17, 2022
Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-designAmanda Pichini, Arzoo Ahmed, Christine Patch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemiaJana Vandrovcova, Ellen R A Thomas, Santosh S Atanur, et al.
Pageof 4