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1 . Academic Journal
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility
저자
by
Shadi Basyuni
;
Laura Heskin
;
Andrea Degasperi
;
Daniella Black
;
Gene C. C. Koh
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
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7 . Academic Journal
Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue
저자
by
Julia Oakley
;
Martin Hill
;
Adam Giess
;
Mélanie Tanguy
;
Greg Elgar
.
소스
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-14 (2023)
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7 . Academic Journal
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark
저자
by
Yang Pei
;
Melanie Tanguy
;
Adam Giess
;
Abhijit Dixit
;
Louise C. Wilson
, et al.
소스
Genes, Vol 15, Iss 7, p 925 (2024)
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7 . Academic Journal
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
저자
by
Eric Olinger
;
Ian J. Wilson
;
Sarah Orr
;
Miguel Barroso-Gil
;
Ruxandra Neatu
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)
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7 . Academic Journal
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
저자
by
Ilaria Dalla Rosa
;
Yolanda Cámara
;
Romina Durigon
;
Chloe F Moss
;
Sara Vidoni
, et al.
소스
PLoS Genetics, Vol 12, Iss 1, p e1005779 (2016)
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7 . Academic Journal
A Simple Predictive Enhancer Syntax for Hindbrain Patterning Is Conserved in Vertebrate Genomes.
저자
by
Joseph Grice
;
Boris Noyvert
;
Laura Doglio
;
Greg Elgar
.
소스
PLoS ONE, Vol 10, Iss 7, p e0130413 (2015)
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6 . Academic Journal
Evolution of lineage-specific functions in ancient cis-regulatory modules
저자
by
Stefan Pauls
;
Debbie K. Goode
;
Libero Petrone
;
Paola Oliveri
;
Greg Elgar
.
소스
Open Biology, Vol 5, Iss 11 (2015)
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7 . Academic Journal
Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.
저자
by
Dilrini R De Silva
;
Richard Nichols
;
Greg Elgar
.
소스
PLoS ONE, Vol 9, Iss 7, p e103357 (2014)
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5 . Academic Journal
A reporter assay in lamprey embryos reveals both functional conservation and elaboration of vertebrate enhancers.
저자
by
Hugo J Parker
;
Tatjana Sauka-Spengler
;
Marianne Bronner
;
Greg Elgar
.
소스
PLoS ONE, Vol 9, Iss 1, p e85492 (2014)
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6 . Academic Journal
Correction: Parallel Evolution of Chordate Regulatory Code for Development.
저자
by
Laura Doglio
;
Debbie K. Goode
;
Maria C. Pelleri
;
Stefan Pauls
;
Flavia Frabetti
, et al.
소스
PLoS Genetics, Vol 9, Iss 11 (2013)
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