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UnknownThe Hypolimnas misippus Genome Supports a Common Origin of the W Chromosome in Lepidoptera.
Not available
S-EPMC11523094 | biostudies-literature
UnknownTargeted deep sequencing of mycobacteria species from extrapulmonary sites not identified by routine line probe assays: A retrospective laboratory analysis of stored clinical cultures.
Not available
S-EPMC11526053 | biostudies-literature
UnknownA survey of homozygous deletions in human cancer genomes.
Not available
S-EPMC555487 | biostudies-literature
UnknownThe potential use of rifabutin for treatment of patients diagnosed with rifampicin-resistant tuberculosis.
Not available
S-EPMC6148329 | biostudies-literature
UnknownIntegrating standardized whole genome sequence analysis with a global Mycobacterium tuberculosis antibiotic resistance knowledgebase.
Not available
S-EPMC6194142 | biostudies-literature
GenomicsInternational Standards for Cytogenomic Arrays

The International Standards for Cytogenomic Arrays (ISCA) Consortium is a rapidly growing group of clinical cytogenetics and molecular genetics laboratories committed to improving quality of patient care related to clinical genetic testing using new molecular cytogenetic technologies including ar...

phs000205.v4.p2 | EGA
GenomicsTHAP11 mutations in a patient with a cblX-like phenotype implicates THAP11 in the regulation of cobalamin metabolism and early vertebrate development
Mutations in HCFC1 are associated with cblX (MIM309541), an X-linked recessive disorder, characterized by defects in cobalamin metabolism and other developmental defects. HCFC1 is a transcriptional co-regulator, which interacts with transcription factors to regulate the expression of a myriad of gen...
EGAS00001002201 | EGA
Genomicsena-DATASET-MCGILL-EDCC-12-01-2017-18:11:29:150-25 - samples
RNA sequencing of 31 patient-derived fibroblast cell lines from patients with inborn errors of cobalamin (vitamin B12) metabolism, and 7 control samples. The RNA seq library was prepared using the TruSeq Stranded Total RNA Sample Preparation Kit (Illumina RS-122–2301) including Ribo-Zero Gold deplet...
EGAD00001003142 | EGA
GenomicsExome sequencing to identify predisposition to Wilms tumour
To identify new Wilms tumor predisposition genes, we performed whole-exome paired-end sequencing of lymphocyte DNA from 12 affected individuals from six unrelated, non-syndromic Wilms tumor families in which known causes had been excluded. We prepared DNA libraries from 1.5 mg blood-derived genomic...
EGAS00001000904 | EGA
UnknownA New Chicken Genome Assembly Provides Insight into Avian Genome Structure.
Not available
S-EPMC5217101 | biostudies-literature
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