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Current protocols in human genetics, 07/2014, Volume 82, pp. 7.24.1 - 7.24.13
Digital droplet PCR (ddPCR) is an assay that combines state-of-the-art microfluidics technology with TaqMan-based PCR to achieve precise target DNA... 
copy number variant | ddPCR | transcript quantification | rare variant detection | TaqMan | genotyping | CNV | Reverse Transcriptase Polymerase Chain Reaction | DNA Copy Number Variations | Polymerase Chain Reaction - methods
Journal Article
Science, ISSN 0036-8075, 12/2015, Volume 350, Issue 6265, pp. 1262 - 1266
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2017, Volume 49, Issue 11, pp. 1593 - 1601
Journal Article
Nature Communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, p. 5507
CRISPR/Cas9 has demonstrated a high-efficiency in site-specific gene targeting. However, potential off-target effects of the Cas9 nuclease represent a major... 
SYSTEM | CRISPR/CAS9 | MULTIDISCIPLINARY SCIENCES | GENE CORRECTION | CRISPR-CAS9 | GENERATION | MUTATIONS | BARTH SYNDROME | CLONES | NUCLEASES
Journal Article
Circulation Research, ISSN 0009-7330, 10/2014, Volume 115, Issue 10, pp. 884 - 896
Journal Article
2014, 43
Reference
Developmental Cell, ISSN 1534-5807, 11/2016, Volume 39, Issue 4, pp. 480 - 490
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 3043 - 9
There are established associations between advanced paternal age and offspring risk for psychiatric and developmental disorders. These are commonly attributed... 
UNITED-STATES | SUPPORT | AUTISM | VARIANTS | MULTIDISCIPLINARY SCIENCES | SCHIZOPHRENIA | PREVALENCE | Mental disorders | Epilepsy | Disorders | Schizophrenia | Risk | Paternity | Nucleotides | Neurodevelopmental disorders | Epidemiology | Coronary artery disease | Autism | Offspring | Mutation | Cardiovascular diseases | Health risk assessment | Heart diseases | Age
Journal Article
Nature Communications, ISSN 2041-1723, 09/2016, Volume 7, Issue 1, p. 12824
Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes.... 
GENE | VARIANTS | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | MOUSE | FRAMEWORK | GENERATION | MICE | MUTATIONS | GENOME
Journal Article
Journal Article
Circulation: Cardiovascular Quality and Outcomes, ISSN 1941-7713, 04/2019, Volume 12, Issue Suppl_1
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2014, Volume 42, Issue 12, pp. e97 - e97
We present CANOES, an algorithm for the detection of rare copy number variants from exome sequencing data. CANOES models read counts using a negative binomial... 
GENOME-WIDE | MODEL | SNP | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISCOVERY | Exome | Algorithms | Oligonucleotide Array Sequence Analysis | Humans | High-Throughput Nucleotide Sequencing | Genotyping Techniques | Sequence Analysis, DNA | DNA Copy Number Variations | Methods Online
Journal Article