Matches in SemOpenAlex for { <https://semopenalex.org/work/W2949062400> ?p ?o ?g. }
- W2949062400 abstract "The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner. We identify 818,054 indel variants (<50 bp) and 27,622 SVs (≥50 bp) per genome. We also discover 156 inversions per genome and 58 of the inversions intersect with the critical regions of recurrent microdeletion and microduplication syndromes. Taken together, our SV callsets represent a three to sevenfold increase in SV detection compared to most standard high-throughput sequencing studies, including those from the 1000 Genomes Project. The methods and the dataset presented serve as a gold standard for the scientific community allowing us to make recommendations for maximizing structural variation sensitivity for future genome sequencing studies." @default.
- W2949062400 created "2019-06-27" @default.
- W2949062400 creator A5000369565 @default.
- W2949062400 creator A5000377378 @default.
- W2949062400 creator A5000904315 @default.
- W2949062400 creator A5002740365 @default.
- W2949062400 creator A5003365023 @default.
- W2949062400 creator A5005747594 @default.
- W2949062400 creator A5006259526 @default.
- W2949062400 creator A5006427311 @default.
- W2949062400 creator A5006816272 @default.
- W2949062400 creator A5008709883 @default.
- W2949062400 creator A5008757230 @default.
- W2949062400 creator A5009250358 @default.
- W2949062400 creator A5011555482 @default.
- W2949062400 creator A5013367192 @default.
- W2949062400 creator A5013937892 @default.
- W2949062400 creator A5014333779 @default.
- W2949062400 creator A5014870107 @default.
- W2949062400 creator A5017265628 @default.
- W2949062400 creator A5017789917 @default.
- W2949062400 creator A5018133771 @default.
- W2949062400 creator A5019345925 @default.
- W2949062400 creator A5019574552 @default.
- W2949062400 creator A5022093098 @default.
- W2949062400 creator A5022617562 @default.
- W2949062400 creator A5024237528 @default.
- W2949062400 creator A5026460408 @default.
- W2949062400 creator A5026487938 @default.
- W2949062400 creator A5027779423 @default.
- W2949062400 creator A5027788390 @default.
- W2949062400 creator A5028045530 @default.
- W2949062400 creator A5028158985 @default.
- W2949062400 creator A5029559145 @default.
- W2949062400 creator A5031125167 @default.
- W2949062400 creator A5031872566 @default.
- W2949062400 creator A5031945784 @default.
- W2949062400 creator A5032548139 @default.
- W2949062400 creator A5032592883 @default.
- W2949062400 creator A5035425274 @default.
- W2949062400 creator A5036795235 @default.
- W2949062400 creator A5037578357 @default.
- W2949062400 creator A5037781760 @default.
- W2949062400 creator A5038582584 @default.
- W2949062400 creator A5038740400 @default.
- W2949062400 creator A5039640786 @default.
- W2949062400 creator A5040704785 @default.
- W2949062400 creator A5042321575 @default.
- W2949062400 creator A5043524225 @default.
- W2949062400 creator A5044232354 @default.
- W2949062400 creator A5045521716 @default.
- W2949062400 creator A5046711633 @default.
- W2949062400 creator A5046943407 @default.
- W2949062400 creator A5047235319 @default.
- W2949062400 creator A5048431290 @default.
- W2949062400 creator A5048844887 @default.
- W2949062400 creator A5050979301 @default.
- W2949062400 creator A5051275961 @default.
- W2949062400 creator A5052704198 @default.
- W2949062400 creator A5053738829 @default.
- W2949062400 creator A5054713542 @default.
- W2949062400 creator A5054867399 @default.
- W2949062400 creator A5055295290 @default.
- W2949062400 creator A5056556792 @default.
- W2949062400 creator A5057167506 @default.
- W2949062400 creator A5059676911 @default.
- W2949062400 creator A5060291693 @default.
- W2949062400 creator A5060528195 @default.
- W2949062400 creator A5061030625 @default.
- W2949062400 creator A5064488370 @default.
- W2949062400 creator A5065838947 @default.
- W2949062400 creator A5067570776 @default.
- W2949062400 creator A5070451329 @default.
- W2949062400 creator A5070991284 @default.
- W2949062400 creator A5071136927 @default.
- W2949062400 creator A5072237449 @default.
- W2949062400 creator A5072347906 @default.
- W2949062400 creator A5072634620 @default.
- W2949062400 creator A5073855965 @default.
- W2949062400 creator A5073862412 @default.
- W2949062400 creator A5076075742 @default.
- W2949062400 creator A5076169902 @default.
- W2949062400 creator A5076192092 @default.
- W2949062400 creator A5078766592 @default.
- W2949062400 creator A5080941650 @default.
- W2949062400 creator A5081239588 @default.
- W2949062400 creator A5081484042 @default.
- W2949062400 creator A5082251778 @default.
- W2949062400 creator A5082531083 @default.
- W2949062400 creator A5082602991 @default.
- W2949062400 creator A5082886367 @default.
- W2949062400 creator A5083782077 @default.
- W2949062400 creator A5084893233 @default.
- W2949062400 creator A5085566064 @default.
- W2949062400 creator A5087265421 @default.
- W2949062400 creator A5088728907 @default.
- W2949062400 creator A5089549807 @default.
- W2949062400 creator A5089568820 @default.
- W2949062400 creator A5090737004 @default.
- W2949062400 date "2019-04-16" @default.