PGT-A GenoAnalyzer

 

๐ŸงฌGenoAnalyzer

PGT-A ๋ฐ niPGT-A ๋ถ„์„์„ ์œ„ํ•œ ๋กœ์ปฌ ๋งž์ถค ์†”๋ฃจ์…˜

 

GenoAnalyzer๋Š” ์ฐฉ์ƒ ์ „ ์œ ์ „์ž ๊ฒ€์‚ฌ(PGT-A ๋ฐ niPGT-A)์— ํŠนํ™”๋œ ์ „๋ฌธ ๋ถ„์„ ํ”Œ๋žซํผ์ž…๋‹ˆ๋‹ค.

๋†’์€ ํ˜ธํ™˜์„ฑ์™„์ „ํžˆ ์ž๋™ํ™”๋œ ์›Œํฌํ”Œ๋กœ์šฐ, ๋งž์ถคํ˜• ๋ณด๊ณ ์„œ ๊ธฐ๋Šฅ์„ ๊ฐ–์ถ”์–ด ์ •ํ™•ํ•˜๊ณ  ์•ˆ์ „ํ•˜๋ฉฐ ํšจ์œจ์ ์ธ ๊ฒฐ๊ณผ๋ฅผ ์ œ๊ณตํ•ฉ๋‹ˆ๋‹ค.

 

 

 


 

๐Ÿ” ๋ฐ์ดํ„ฐ ๋ณด์•ˆ์„ ์œ„ํ•œ ๋กœ์ปฌ ๋ถ„์„

๋ชจ๋“  ๋ถ„์„์ด ๋กœ์ปฌ ์„œ๋ฒ„ ๋‚ด๋ถ€์—์„œ ์ง„ํ–‰๋˜์–ด ํด๋ผ์šฐ๋“œ ์—…๋กœ๋“œ๊ฐ€ ๋ถˆํ•„์š”ํ•˜๋ฉฐ, ์™„๋ฒฝํ•œ ๋ฐ์ดํ„ฐ ๋ณด์•ˆ ๋ฐ ๊ฐœ์ธ์ •๋ณด ๋ณดํ˜ธ๋ฅผ ๋ณด์žฅํ•ฉ๋‹ˆ๋‹ค.

 


 

 

๐Ÿงฉ ๋‹ค์–‘ํ•œ ํ”Œ๋žซํผ ๋ฐ ํŒŒ์ผ ํ˜•์‹ ์ง€์›

์ง€์› ์‹œํ€€์‹ฑ ํ”Œ๋žซํผ: Illumina, Thermo Fisher, MGI, Oxford Nanopore

์ง€์› ํŒŒ์ผ ํ˜•์‹: BAM, FASTQ (.fastq.gz, .fq.gz)

์ฃผ์š” NGS ํ”Œ๋žซํผ ๋ฐ ํŒŒ์ผ ํ˜•์‹๊ณผ ์›ํ™œํ•˜๊ฒŒ ์—ฐ๋™๋ฉ๋‹ˆ๋‹ค.

 

 


 

 

โš™๏ธ ์˜ค์ฐจ ์—†๋Š” ์ž๋™ํ™” ๋ถ„์„

์™„์ „ ์ž๋™ ๋ถ„์„ ํŒŒ์ดํ”„๋ผ์ธ

์‚ฌ๋žŒ ์†์„ ๊ฑฐ์น˜์ง€ ์•Š์•„ ์ผ๊ด€๋˜๊ณ  ๊ฐ๊ด€์ ์ธ ๊ฒฐ๊ณผ ์ œ๊ณต

 

 


 

 

๐Ÿ” ์ฃผ์š” ๊ธฐ๋Šฅ

๐Ÿงฌ PGT-A ๋ถ„์„

CNV ๋ถ„์„ํ•ด์ƒ๋„ ์กฐ์ ˆ ๊ฐ€๋Šฅ (Chromosome / Arm / 10 Mb / 4 Mb)

Threshold๋ฅผ ์„ค์ •ํ•˜์—ฌ mosaicism ํƒ์ง€ ๊ฐ€๋Šฅ

Sibling Quality Control (QC)์„ ํ†ตํ•œ ์˜ค์—ผ ๋ฐ ๊ด€๊ณ„์„ฑ ํ™•์ธ

 

CNV ๋ฐ SNP ํ†ตํ•ฉ ๋ถ„์„Triploidy, Uniparental Disomy (UPD), Regions of Homozygosity (ROH) ํƒ์ง€

mitochondrial DNA (mtDNA) ๋ถ„์„ ์ง€์›

 

๐Ÿงฌ niPGT-A ๋ถ„์„

CNV ๋ฐ AI ๊ธฐ๋ฐ˜ ๋ถ„์„: ๋น„์นจ์Šต ์ƒ˜ํ”Œ์˜ aneuploidy์™€ mosaicism ํƒ์ง€

AI ๊ธฐ๋ฐ˜ ๋ฐฐ์•„ ๋“ฑ๊ธ‰ ํ‰๊ฐ€

 

 


 

 

๐Ÿ–ฅ๏ธ UI ๋ฐ ์›Œํฌํ”Œ๋กœ์šฐ

๐Ÿ“Œ ํ™ˆ ๋ฐ ๋ถ„์„ ๋Œ€์‹œ๋ณด๋“œ

์ง๊ด€์  UI: ๋ช…๋ น์–ด ํ•„์š” ์—†์ด ๊น”๋”ํ•˜๊ณ  ์‰ฌ์šด ์ธํ„ฐํŽ˜์ด์Šค

์‹ ์†ํ•œ ๋ถ„์„: ํ‰๊ท  10๋ถ„~1.5์‹œ๊ฐ„ ๋‚ด ๊ฒฐ๊ณผ ๋„์ถœ

์™„์ „ ๋กœ์ปฌ ์‹คํ–‰: ์™ธ๋ถ€ ์—…๋กœ๋“œ ์—†์ด ์•ˆ์ „ํ•œ ๋ฐ์ดํ„ฐ ์ฒ˜๋ฆฌ

๋ณด๊ณ ์„œ ๋ฐ ํŒŒ๋ผ๋ฏธํ„ฐ ๋งž์ถค ์„ค์ •: ์ž„์ƒ ์š”๊ตฌ์— ๋งž๊ฒŒ ์ž์œ ๋กญ๊ฒŒ ์กฐ์ • ๊ฐ€๋Šฅ

 

๐Ÿ“Œ PGT-A / niPGT-A ์ž‘์—… ์ œ์ถœ

ํด๋ฆญ ํ•œ ๋ฒˆ์œผ๋กœ ํ”Œ๋žซํผ ๋ฐ ์‹œ์•ฝ ์„ ํƒ

fastq.gz, fq.gz ํŒŒ์ผ ์—…๋กœ๋“œ ์ง€์›

์„ธ๋ถ€ ์กฐ์ • ๊ฐ€๋Šฅ: CNV ๋ณด์ •

์„ฑ์—ผ์ƒ‰์ฒด ๋ณด๊ณ  ์—ฌ๋ถ€

๋ฐ์ดํ„ฐ ์šฉ๋Ÿ‰ ์ œํ•œ ์„ค์ •

Batch / ๋ฐ˜๋ณต ๋ถ„์„์„ ์œ„ํ•œ ๋ฐฑ์—”๋“œ ์—…๋กœ๋“œ ์ง€์›

 

 


 

 

๐Ÿงพ ์‹œ์Šคํ…œ ์š”๊ตฌ ์‚ฌํ•ญ

์šด์˜์ฒด์ œ: Ubuntu 20.04 ์ด์ƒ

CPU: 62 ์ฝ”์–ด / 32 ์Šค๋ ˆ๋“œ

๋ฉ”๋ชจ๋ฆฌ (RAM): ์ตœ์†Œ 64GB (๊ถŒ์žฅ 256GB)

์ €์žฅ๊ณต๊ฐ„: ์ตœ์†Œ 40TB

 

 


 

 

๋” ์•Œ์•„๋ณด๊ธฐ / ์ฒดํ—˜ ๋ฌธ์˜

๐Ÿ‘‰ ์ง€๊ธˆ ๋ฐ”๋กœ ๋ฌธ์˜ํ•˜์…”์„œ GenoAnalyzer๊ฐ€ ์ œ๊ณตํ•˜๋Š” ๋น ๋ฅด๊ณ  ์•ˆ์ „ํ•˜๋ฉฐ ์‹ ๋ขฐ์„ฑ ๋†’์€ PGT-A ๋ถ„์„์„ ๊ฒฝํ—˜ํ•ด ๋ณด์„ธ์š”!

 

 

์žฌ์ž…๊ณ  ์•Œ๋ฆผ ์‹ ์ฒญ
ํœด๋Œ€ํฐ ๋ฒˆํ˜ธ
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์žฌ์ž…๊ณ  ์‹œ ์•Œ๋ฆผ
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