Search research articles
Contact Us
Filters
Showing results (11-20 of 36) with videos related to
Page
of 4
Sort By:
Human Mutation
|
December 17, 2015
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
Ian M Campbell, Tomasz Gambin, Shalini Jhangiani, et al.
NPJ Genomic Medicine
|
April 23, 2021
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies
|
December 1, 2016
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, et al.
BMC Bioinformatics
|
January 31, 2014
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline
Jeffrey G Reid, Andrew Carroll, Narayanan Veeraraghavan, et al.
Plos One
|
February 3, 2017
Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility
Jihoon Kim, Chisato Shimizu, Stephen F Kingsmore, et al.
Nature Genetics
|
April 28, 2015
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease
Alexander H Li, Alanna C Morrison, Christie Kovar, et al.
NPJ Genomic Medicine
|
February 14, 2023
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Yan Ding, Mallory Owen, Jennie Le, et al.
NPJ Genomic Medicine
|
April 13, 2018
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, et al.
Circulation. Cardiovascular Genetics
|
January 11, 2015
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease
Bing Yu, Alexander H Li, Donna Muzny, et al.
Thrombosis and Haemostasis
|
March 17, 2017
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation
John D Eicher, Ming-Huei Chen, Achilleas N Pitsillides, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 36) with videos related to
Sort By:
Page
of 4
Human Mutation
|
December 17, 2015
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
Ian M Campbell, Tomasz Gambin, Shalini Jhangiani, et al.
NPJ Genomic Medicine
|
April 23, 2021
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies
|
December 1, 2016
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, et al.
BMC Bioinformatics
|
January 31, 2014
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline
Jeffrey G Reid, Andrew Carroll, Narayanan Veeraraghavan, et al.
Plos One
|
February 3, 2017
Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility
Jihoon Kim, Chisato Shimizu, Stephen F Kingsmore, et al.
Nature Genetics
|
April 28, 2015
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease
Alexander H Li, Alanna C Morrison, Christie Kovar, et al.
NPJ Genomic Medicine
|
February 14, 2023
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Yan Ding, Mallory Owen, Jennie Le, et al.
NPJ Genomic Medicine
|
April 13, 2018
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, et al.
Circulation. Cardiovascular Genetics
|
January 11, 2015
Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease
Bing Yu, Alexander H Li, Donna Muzny, et al.
Thrombosis and Haemostasis
|
March 17, 2017
Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation
John D Eicher, Ming-Huei Chen, Achilleas N Pitsillides, et al.
Page
of 4