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Updated: May 13, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

ヒトゲノム配列の変異の地図は,142万個の単一核性子ポリモルフィズムを含む

R Sachidanandam1, D Weissman, S C Schmidt

  • 1Cold Spring Harbor, New York 11724, USA.

Nature
|March 10, 2001
PubMed
まとめ

現在,ヒトゲノム全体で1420万個の単一ヌクレオチドポリモルフィズム (SNP) の包括的な地図が公開されています. この高密度SNPマップは,遺伝的多様性を理解し,医学的な応用のための遺伝子を特定するのに役立ちます.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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