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Matthew E Hurles

Showing results (41-50 of 188) with videos related to

Pageof 19
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Nature Methods|August 27, 2013
DeNovoGear: de novo indel and point mutation discovery and phasingAvinash Ramu, Michiel J Noordam, Rachel S Schwartz, et al.
Wellcome Open Research|March 21, 2017
Returning genome sequences to research participants: Policy and practiceCaroline F Wright, Anna Middleton, Jeffrey C Barrett, et al.
Human Mutation|February 10, 2022
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchJulia Foreman, Simon Brent, Daniel Perrett, et al.
Nucleic Acids Research|October 24, 2013
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variationEugene Bragin, Eleni A Chatzimichali, Caroline F Wright, et al.
Human Molecular Genetics|January 31, 2014
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasoundKeren J Carss, Sarah C Hillman, Vijaya Parthiban, et al.
Plos Genetics|March 8, 2014
The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of ageJacqueline A L MacArthur, Timothy D Spector, Sarah J Lindsay, et al.
Genetic Epidemiology|September 14, 2012
Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationshipManuela Zanda, Suna Onengut, Neil Walker, et al.
Nature Genetics|December 7, 2007
Germline rates of de novo meiotic deletions and duplications causing several genomic disordersDaniel J Turner, Marcos Miretti, Diana Rajan, et al.
Nature Genetics|September 5, 2007
Challenges and standards in integrating surveys of structural variationStephen W Scherer, Charles Lee, Ewan Birney, et al.
Bioinformatics (Oxford, England)|September 20, 2014
Using population data for assessing next-generation sequencing performanceDarren T Houniet, Thahira J Rahman, Saeed Al Turki, et al.
Pageof 19

Showing results (41-50 of 188) with videos related to

Sort By:
Pageof 19
Nature Methods|August 27, 2013
DeNovoGear: de novo indel and point mutation discovery and phasingAvinash Ramu, Michiel J Noordam, Rachel S Schwartz, et al.
Wellcome Open Research|March 21, 2017
Returning genome sequences to research participants: Policy and practiceCaroline F Wright, Anna Middleton, Jeffrey C Barrett, et al.
Human Mutation|February 10, 2022
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and researchJulia Foreman, Simon Brent, Daniel Perrett, et al.
Nucleic Acids Research|October 24, 2013
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variationEugene Bragin, Eleni A Chatzimichali, Caroline F Wright, et al.
Human Molecular Genetics|January 31, 2014
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasoundKeren J Carss, Sarah C Hillman, Vijaya Parthiban, et al.
Plos Genetics|March 8, 2014
The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of ageJacqueline A L MacArthur, Timothy D Spector, Sarah J Lindsay, et al.
Genetic Epidemiology|September 14, 2012
Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationshipManuela Zanda, Suna Onengut, Neil Walker, et al.
Nature Genetics|December 7, 2007
Germline rates of de novo meiotic deletions and duplications causing several genomic disordersDaniel J Turner, Marcos Miretti, Diana Rajan, et al.
Nature Genetics|September 5, 2007
Challenges and standards in integrating surveys of structural variationStephen W Scherer, Charles Lee, Ewan Birney, et al.
Bioinformatics (Oxford, England)|September 20, 2014
Using population data for assessing next-generation sequencing performanceDarren T Houniet, Thahira J Rahman, Saeed Al Turki, et al.
Pageof 19