| scholarly article | Q13442814 |
| P2093 | author name string | Yu Liang | |
| Li He | |||
| Chuan Li | |||
| Menglong Li | |||
| Zhining Wen | |||
| Xuemei Pu | |||
| Yifan Zhou | |||
| Yinyi Hao | |||
| Yiru Zhao | |||
| P2860 | cites work | De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia. | Q52714487 |
| The Challenge of Analyzing the Results of Next-Generation Sequencing in Children. | Q53338641 | ||
| Precise detection of de novo single nucleotide variants in human genomes. | Q53824685 | ||
| Comparison of phasing strategies for whole human genomes. | Q55008723 | ||
| HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data. | Q55387186 | ||
| De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome | Q55671561 | ||
| De novo mutations in moderate or severe intellectual disability | Q21144861 | ||
| Variation in genome-wide mutation rates within and between human families | Q22122055 | ||
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 | ||
| beta-dystrobrevin, a member of the dystrophin-related protein family | Q24682037 | ||
| Clinical application of next-generation sequencing for Mendelian diseases | Q26851246 | ||
| Extensive sequencing of seven human genomes to characterize benchmark reference materials | Q27309266 | ||
| The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
| SeqHBase: a big data toolset for family based sequencing data analysis | Q28255525 | ||
| PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data | Q30574984 | ||
| Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls | Q30758000 | ||
| Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data | Q30827491 | ||
| Trio-based exome sequencing arrests de novo mutations in early-onset high myopia | Q33594752 | ||
| De novo mutations in human genetic disease | Q34288731 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| A likelihood-based framework for variant calling and de novo mutation detection in families | Q34440676 | ||
| Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 | ||
| Using VarScan 2 for Germline Variant Calling and Somatic Mutation Detection | Q34782823 | ||
| Advantages of Single-Molecule Real-Time Sequencing in High-GC Content Genomes | Q34873285 | ||
| Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing | Q35157216 | ||
| A Bayesian framework for de novo mutation calling in parents-offspring trios | Q35541141 | ||
| Recessive LAMC3 mutations cause malformations of occipital cortical development | Q35898589 | ||
| A framework for the detection of de novo mutations in family-based sequencing data | Q36201705 | ||
| Rare variant detection using family-based sequencing analysis | Q36673312 | ||
| Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase | Q36817367 | ||
| Genomic sequencing in clinical practice: applications, challenges, and opportunities | Q37344774 | ||
| Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. | Q37550264 | ||
| Rare-disease genetics in the era of next-generation sequencing: discovery to translation | Q38133704 | ||
| DeNovoGear: de novo indel and point mutation discovery and phasing. | Q39031240 | ||
| Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. | Q39454517 | ||
| DIAMUND: direct comparison of genomes to detect mutations | Q39891102 | ||
| A new era in the discovery of de novo mutations underlying human genetic disease | Q41847426 | ||
| Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. | Q42629171 | ||
| Genomic Patterns of De Novo Mutation in Simplex Autism. | Q43828985 | ||
| De novo mutations of SETBP1 cause Schinzel-Giedion syndrome | Q45340629 | ||
| A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads | Q47854211 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 358 | |
| P577 | publication date | 2019-01-01 | |
| P1433 | published in | Frontiers in Pharmacology | Q2681208 |
| P1476 | title | Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the Mutations in Humans | |
| P478 | volume | 10 |
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