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Bioinformatics (Oxford, England)
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June 17, 2026
needLR: Long-read structural variant annotation with population-scale frequency estimation
Jonas A Gustafson, Jiadong Lin, Miranda P G Zalusky, et al.
The Journal of Molecular Diagnostics : JMD
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January 5, 2025
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes
Cate R Paschal, Miranda P G Zalusky, Anita E Beck, et al.
Kidney International Reports
|
December 19, 2024
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease
Takayasu Mori, Takuya Fujimaru, Chunyu Liu, et al.
Transfusion
|
September 17, 2025
Long-read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis
Hui Xiao Chao, Thomas Ma, Livia Hegerova, et al.
Neurology. Genetics
|
September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot
Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
Genome Research
|
October 2, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Bioinformatics (Oxford, England)
|
June 17, 2026
needLR: Long-read structural variant annotation with population-scale frequency estimation
Jonas A Gustafson, Jiadong Lin, Miranda P G Zalusky, et al.
The Journal of Molecular Diagnostics : JMD
|
January 5, 2025
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes
Cate R Paschal, Miranda P G Zalusky, Anita E Beck, et al.
Kidney International Reports
|
December 19, 2024
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease
Takayasu Mori, Takuya Fujimaru, Chunyu Liu, et al.
Transfusion
|
September 17, 2025
Long-read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis
Hui Xiao Chao, Thomas Ma, Livia Hegerova, et al.
Neurology. Genetics
|
September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot
Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
Genome Research
|
October 2, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
Page
of 1