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European Journal of Human Genetics : EJHG
|
July 18, 2013
Reply to ten Kate et al
Alessandro Gialluisi, Tommaso Pippucci, Giovanni Romeo
BMC Genomics
|
September 23, 2017
XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments
Alberto Magi, Tommaso Pippucci, Carlo Sidore
Bioinformatics (Oxford, England)
|
August 18, 2020
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level
Emanuela Iovino, Marco Seri, Tommaso Pippucci
Human Heredity
|
July 26, 2014
Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies
Tommaso Pippucci, Alberto Magi, Alessandro Gialluisi, et al.
Bioinformatics (Oxford, England)
|
December 27, 2011
Read count approach for DNA copy number variants detection
Alberto Magi, Lorenzo Tattini, Tommaso Pippucci, et al.
Epilepsia
|
February 6, 2016
DEPDC5 mutations in epilepsy with auditory features
Francesca Bisulli, Laura Licchetta, Sara Baldassari, et al.
Journal of Medical Genetics
|
May 22, 2016
GATOR1 complex: the common genetic actor in focal epilepsies
Sara Baldassari, Laura Licchetta, Paolo Tinuper, et al.
Nucleic Acids Research
|
August 11, 2016
Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2
Romina D'Aurizio, Tommaso Pippucci, Lorenzo Tattini, et al.
Frontiers in Genetics
|
March 21, 2024
Long read sequencing on its way to the routine diagnostics of genetic diseases
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Annals of Human Genetics
|
December 23, 2011
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI)
Alessandro Gialluisi, Tommaso Pippucci, Yair Anikster, et al.
Page
of 12
Search research articles
Search
Showing results (1-10 of 117) with videos related to
Sort By:
Page
of 12
European Journal of Human Genetics : EJHG
|
July 18, 2013
Reply to ten Kate et al
Alessandro Gialluisi, Tommaso Pippucci, Giovanni Romeo
BMC Genomics
|
September 23, 2017
XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments
Alberto Magi, Tommaso Pippucci, Carlo Sidore
Bioinformatics (Oxford, England)
|
August 18, 2020
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level
Emanuela Iovino, Marco Seri, Tommaso Pippucci
Human Heredity
|
July 26, 2014
Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies
Tommaso Pippucci, Alberto Magi, Alessandro Gialluisi, et al.
Bioinformatics (Oxford, England)
|
December 27, 2011
Read count approach for DNA copy number variants detection
Alberto Magi, Lorenzo Tattini, Tommaso Pippucci, et al.
Epilepsia
|
February 6, 2016
DEPDC5 mutations in epilepsy with auditory features
Francesca Bisulli, Laura Licchetta, Sara Baldassari, et al.
Journal of Medical Genetics
|
May 22, 2016
GATOR1 complex: the common genetic actor in focal epilepsies
Sara Baldassari, Laura Licchetta, Paolo Tinuper, et al.
Nucleic Acids Research
|
August 11, 2016
Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2
Romina D'Aurizio, Tommaso Pippucci, Lorenzo Tattini, et al.
Frontiers in Genetics
|
March 21, 2024
Long read sequencing on its way to the routine diagnostics of genetic diseases
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Annals of Human Genetics
|
December 23, 2011
Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI)
Alessandro Gialluisi, Tommaso Pippucci, Yair Anikster, et al.
Page
of 12