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1994, ISBN 3437115375, Volume 28, no. 3., 47
Book
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 8, pp. 815 - 822
For next-generation sequencing technologies, sufficient base-pair coverage is the foremost requirement for the reliable detection of genomic variants. We... 
coverage | genome sequencing | exome sequencing | Genome sequencing | Coverage | Exome sequencing | ACCURATE | WHOLE-GENOME | VARIANTS | SNP | BIAS | GENES | GENETICS & HEREDITY | ENRICHMENT | COPY-NUMBER VARIATION | Exome | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Humans | Open Reading Frames | Proteins | Genomes | Mutation | Methods
Journal Article
PLoS Biology, ISSN 1544-9173, 2011, Volume 9, Issue 1, p. e1000582
Journal Article
Journal Article
NATURE GENETICS, ISSN 1061-4036, 09/2019, Volume 51, Issue 9, pp. 1304 - 1305
Far from being junk DNA, the pervasive retrotransposons that populate the genome have a powerful capacity to influence genes and chromatin. A new study... 
CTCF | DOMAINS | GENETICS & HEREDITY | MAMMALIAN GENOMES | Chromatin | Retroviruses | Transposons | Research | Genetic transcription | Insulation | Cohesion | Pol II | Transcription elongation | Genes | Genomics | Blocking | Genomes | RNA polymerase | Boundaries | Monkeys & apes | DNA-directed RNA polymerase | Promoters | Polymerase | Stem cells | Extrusion | Stochasticity | Cohesin | RNA polymerase II | Elongation
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 06/2019, Volume 116, Issue 25, pp. 12390 - 12399
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 2869 - 2892
The purpose of the nosology is to serve as a “master” list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or... 
nosology | molecular basis of disease | dwarfism | skeletal dysplasias | Dwarfism | Nosology | Molecular basis of disease | Skeletal dysplasias | NOMENCLATURE | GENETICS & HEREDITY | CONSTITUTIONAL DISORDERS | Bone Diseases - classification | Bone Diseases - genetics | Humans | Genetic Diseases, Inborn - classification
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2016, Volume 25, Issue 2, pp. R157 - R165
Over the past decades the search for disease causing variants has been focusing exclusively on the coding genome. This highly selective approach has been... 
LIMB | SEX REVERSAL | DISRUPTION | CAMPOMELIC DYSPLASIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ENHANCER | MUTATIONS | EXPRESSION | REGULATORY LANDSCAPE | GENOME | RANGE
Journal Article
2014, ISBN 3540959270
One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the... 
Medicine | Pediatrics | Orthopedic surgery | Radiology, Medical | Human genetics
Web Resource
2014, ISBN 3540959270
One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the... 
Medicine | Pediatrics | Orthopedic surgery | Radiology, Medical | Human genetics
Web Resource
Journal Article