Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) |
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| Affiliation: | 1. Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, University of Southern California, Los Angeles, CA;2. Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH;3. Invitae, San Francisco, CA;4. Molecular Genetics Laboratory, Air Force Medical Genetics Center, Keesler Air Force Base, Biloxi, MS;5. The University of Mississippi Medical Center, Jackson, MS;6. Division of Genetic and Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH;7. Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH;8. Department of Pathology, Baylor University Medical Center, Dallas, TX;9. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA;10. Autism & Developmental Medicine Institute, Geisinger, Danville, PA;11. Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;12. Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN;13. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA;14. American College of Medical Genetics and Genomics, Bethesda, MD |
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| Abstract: | |
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| Keywords: | Balanced rearrangements Copy number variants Exome sequencing Genome sequencing Structural variants AF" },{" #name" :" keyword" ," $" :{" id" :" kwrd0010" }," $$" :[{" #name" :" text" ," _" :" allele frequency BCR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0020" }," $$" :[{" #name" :" text" ," _" :" balanced chromosomal rearrangement CMA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0030" }," $$" :[{" #name" :" text" ," _" :" chromosomal microarray CNV" },{" #name" :" keyword" ," $" :{" id" :" kwrd0040" }," $$" :[{" #name" :" text" ," _" :" copy number variant ES" },{" #name" :" keyword" ," $" :{" id" :" kwrd0050" }," $$" :[{" #name" :" text" ," _" :" exome sequencing GS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0060" }," $$" :[{" #name" :" text" ," _" :" genome sequencing ID/DD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0070" }," $$" :[{" #name" :" text" ," _" :" intellectual disability/developmental delay LRS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0080" }," $$" :[{" #name" :" text" ," _" :" long read sequencing MCA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0090" }," $$" :[{" #name" :" text" ," _" :" multiple congenital anomalies MLPA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0100" }," $$" :[{" #name" :" text" ," _" :" multiplex ligation-dependent probe amplification MV" },{" #name" :" keyword" ," $" :{" id" :" kwrd0110" }," $$" :[{" #name" :" text" ," _" :" mitochondrial variant NGS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0120" }," $$" :[{" #name" :" text" ," _" :" next-generation sequencing NIPS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0130" }," $$" :[{" #name" :" text" ," _" :" noninvasive prenatal screening OM" },{" #name" :" keyword" ," $" :{" id" :" kwrd0140" }," $$" :[{" #name" :" text" ," _" :" optical mapping POC" },{" #name" :" keyword" ," $" :{" id" :" kwrd0150" }," $$" :[{" #name" :" text" ," _" :" products of conception QC" },{" #name" :" keyword" ," $" :{" id" :" kwrd0160" }," $$" :[{" #name" :" text" ," _" :" quality control qPCR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0170" }," $$" :[{" #name" :" text" ," _" :" quantitative polymerase chain reaction (PCR) RE" },{" #name" :" keyword" ," $" :{" id" :" kwrd0180" }," $$" :[{" #name" :" text" ," _" :" repeat expansion ROH" },{" #name" :" keyword" ," $" :{" id" :" kwrd0190" }," $$" :[{" #name" :" text" ," _" :" regions of homozygosity SNV" },{" #name" :" keyword" ," $" :{" id" :" kwrd0200" }," $$" :[{" #name" :" text" ," _" :" single nucleotide variant SOP" },{" #name" :" keyword" ," $" :{" id" :" kwrd0210" }," $$" :[{" #name" :" text" ," _" :" standard operating procedure SRS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0220" }," $$" :[{" #name" :" text" ," _" :" short read sequencing ssDNA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0230" }," $$" :[{" #name" :" text" ," _" :" single-stranded DNA STR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0240" }," $$" :[{" #name" :" text" ," _" :" short tandem repeat SV" },{" #name" :" keyword" ," $" :{" id" :" kwrd0250" }," $$" :[{" #name" :" text" ," _" :" structural variant includes both CNVs and balanced rearrangements |
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