Lista de obras -

A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data

artículo científico publicado en 2016

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

artículo científico publicado en 2013

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

artículo científico publicado en 2014

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

Ancient human parallel lineages within North America contributed to a coastal expansion

scientific article published in Science

Anharmonic effects in IR, Raman, and Raman optical activity spectra of alanine and proline zwitterions

scientific article published on 01 June 2007

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

artículo científico publicado en 2016

BCFtools/csq: haplotype-aware variant consequences

artículo científico publicado en 2017

Cardelino: Integrating whole exomes and single-cell transcriptomes to reveal phenotypic impact of somatic variants

Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes

artículo científico publicado en 2020

Common genetic variation drives molecular heterogeneity in human iPSCs

artículo científico publicado en 2017

Comparison of quantitative conformer analyses by nuclear magnetic resonance and Raman optical activity spectra for model dipeptides.

artículo científico publicado en 2008

Comparison of the numerical stability of methods for anharmonic calculations of vibrational molecular energies

artículo científico publicado en 2007

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

artículo científico publicado en 2017

Contribution of retrotransposition to developmental disorders

artículo científico publicado en 2019

Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs

artículo científico publicado en 2017

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

artículo científico publicado en 2015

Erratum: Whole-genome sequence-based analysis of thyroid function

artículo científico publicado en 2015

Evidence for 28 genetic disorders discovered by combining healthcare and research data

artículo científico publicado en 2020

Flavitrack analysis of the structure and function of West Nile non-structural proteins

artículo científico publicado en 2010

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

artículo científico publicado en 2012

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

artículo científico publicado en 2015

Insights into human genetic variation and population history from 929 diverse genomes

artículo científico publicado en 2020

Mouse genomic variation and its effect on phenotypes and gene regulation

artículo científico publicado en 2011

Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci

PCP Consensus Sequences of Flaviviruses: Correlating Variance with Vector Competence and Disease Phenotype

artículo científico publicado en 2010

Reference-based phasing using the Haplotype Reference Consortium panel

artículo científico publicado en 2016

Response to Giem

artículo científico publicado en 2018

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

scientific article published on 01 October 2018

The UK10K project identifies rare variants in health and disease

artículo científico publicado en 2015

Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians

artículo científico publicado en 2015

Very low depth whole genome sequencing in complex trait association studies

Very low-depth whole-genome sequencing in complex trait association studies

scientific article published on 01 August 2019

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

artículo científico publicado en 2017

Whole-genome sequence-based analysis of thyroid function.

artículo científico publicado en 2015

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

artículo científico publicado en 2015

Lista de obras de

A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

A reference panel of 64,976 haplotypes for genotype imputation

Ancient human parallel lineages within North America contributed to a coastal expansion

Anharmonic effects in IR, Raman, and Raman optical activity spectra of alanine and proline zwitterions

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

BCFtools/csq: haplotype-aware variant consequences

Cardelino: Integrating whole exomes and single-cell transcriptomes to reveal phenotypic impact of somatic variants

Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes

Common genetic variation drives molecular heterogeneity in human iPSCs

Comparison of quantitative conformer analyses by nuclear magnetic resonance and Raman optical activity spectra for model dipeptides.

Comparison of the numerical stability of methods for anharmonic calculations of vibrational molecular energies

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

Contribution of retrotransposition to developmental disorders

Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Erratum: Whole-genome sequence-based analysis of thyroid function

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Flavitrack analysis of the structure and function of West Nile non-structural proteins

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Insights into human genetic variation and population history from 929 diverse genomes

Mouse genomic variation and its effect on phenotypes and gene regulation

Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci

PCP Consensus Sequences of Flaviviruses: Correlating Variance with Vector Competence and Disease Phenotype

Reference-based phasing using the Haplotype Reference Consortium panel

Response to Giem

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

The UK10K project identifies rare variants in health and disease

Tracing the route of modern humans out of Africa by using 225 human genome sequences from Ethiopians and Egyptians

Very low depth whole genome sequencing in complex trait association studies

Very low-depth whole-genome sequencing in complex trait association studies

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Whole-genome sequence-based analysis of thyroid function.

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture