Pages that link to "Q46608365"
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The following pages link to Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms (Q46608365):
Displaying 50 items.
- Alignment of Short Reads: A Crucial Step for Application of Next-Generation Sequencing Data in Precision Medicine (Q26776526) (← links)
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (Q28277378) (← links)
- Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing (Q30857788) (← links)
- RVD2: an ultra-sensitive variant detection model for low-depth heterogeneous next-generation sequencing data. (Q30941690) (← links)
- The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data (Q30978835) (← links)
- FermiKit: assembly-based variant calling for Illumina resequencing data (Q30983706) (← links)
- A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree (Q31146221) (← links)
- Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer (Q33622362) (← links)
- BALSA: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by GPU. (Q33764892) (← links)
- In vivo genome editing with a small Cas9 orthologue derived from Campylobacter jejuni (Q33807299) (← links)
- Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance (Q34439282) (← links)
- Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations (Q34549536) (← links)
- Negative selection in humans and fruit flies involves synergistic epistasis. (Q34556251) (← links)
- From days to hours: reporting clinically actionable variants from whole genome sequencing (Q35088090) (← links)
- An analytical framework for optimizing variant discovery from personal genomes (Q35153418) (← links)
- Altered levels of mitochondrial DNA are associated with female age, aneuploidy, and provide an independent measure of embryonic implantation potential (Q35651100) (← links)
- elPrep: High-Performance Preparation of Sequence Alignment/Map Files for Variant Calling (Q35693697) (← links)
- ExScalibur: A High-Performance Cloud-Enabled Suite for Whole Exome Germline and Somatic Mutation Identification (Q35745210) (← links)
- Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies (Q35850909) (← links)
- Emergency medical genomes: a breakthrough application of precision medicine (Q35903049) (← links)
- A somatic reference standard for cancer genome sequencing (Q35994200) (← links)
- Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma (Q36015250) (← links)
- Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care (Q36423179) (← links)
- REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING (Q36483446) (← links)
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications (Q36580250) (← links)
- Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes (Q36620496) (← links)
- Genome-wide target specificities of CRISPR-Cas9 nucleases revealed by multiplex Digenome-seq (Q36633212) (← links)
- Detailed Characterization of Human Induced Pluripotent Stem Cells Manufactured for Therapeutic Applications. (Q37034262) (← links)
- Genetically distinct leukemic stem cells in human CD34- acute myeloid leukemia are arrested at a hemopoietic precursor-like stage. (Q37179007) (← links)
- Early somatic mosaicism is a rare cause of long-QT syndrome (Q37346748) (← links)
- TruePrime is a novel method for whole-genome amplification from single cells based on TthPrimPol (Q37479146) (← links)
- Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy. (Q37727544) (← links)
- Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. (Q38644619) (← links)
- Fast and accurate HLA typing from short-read next-generation sequence data with xHLA. (Q38695366) (← links)
- 16GT: a fast and sensitive variant caller using a 16-genotype probabilistic model (Q38715336) (← links)
- Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups (Q38742049) (← links)
- Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. (Q38812306) (← links)
- Recent advances in sequence assembly: principles and applications (Q38814575) (← links)
- Digenome-seq: genome-wide profiling of CRISPR-Cas9 off-target effects in human cells (Q38911544) (← links)
- Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites (Q38927327) (← links)
- MED12 is recurrently mutated in Middle Eastern colorectal cancer. (Q38968909) (← links)
- Comparative analysis of whole genome sequencing-based telomere length measurement techniques (Q39449644) (← links)
- Acceleration of short and long DNA read mapping without loss of accuracy using suffix array (Q39741085) (← links)
- Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings (Q39847275) (← links)
- Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. (Q40580392) (← links)
- Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio (Q42147396) (← links)
- Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy (Q45063174) (← links)
- Correction of a pathogenic gene mutation in human embryos (Q45370513) (← links)
- Haplotype phasing of whole human genomes using bead-based barcode partitioning in a single tube. (Q45978724) (← links)
- Detection of long repeat expansions from PCR-free whole-genome sequence data (Q46065898) (← links)