[HTML][HTML] Runs of homozygosity: windows into population history and trait architecture
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …
Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data
V Narasimhan, P Danecek, A Scally, Y Xue… - …, 2016 - academic.oup.com
Runs of homozygosity (RoHs) are genomic stretches of a diploid genome that show identical
alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are …
alleles on both chromosomes. Longer RoHs are unlikely to have arisen by chance but are …
[HTML][HTML] Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Abstract The Greater Middle East (GME) has been a central hub of human migration and
population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf …
population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf …
[HTML][HTML] Variant PNLDC1, Defective piRNA Processing, and Azoospermia
L Nagirnaja, N Mørup, JE Nielsen… - … England Journal of …, 2021 - Mass Medical Soc
Background P-element–induced wimpy testis (PIWI)–interacting RNAs (piRNAs) are short
(21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ …
(21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ …
Iranome: a catalog of genomic variations in the Iranian population
Considering the application of human genome variation databases in precision medicine,
population‐specific genome projects are continuously being developed. However, the …
population‐specific genome projects are continuously being developed. However, the …
Diverse monogenic subforms of human spermatogenic failure
L Nagirnaja, AM Lopes, WL Charng, B Miller… - Nature …, 2022 - nature.com
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most …
incurable. Defining the genetic basis of NOA has proven challenging, and the most …
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Homozygosity mapping is a powerful method for identifying mutations in patients with
recessive conditions, especially in consanguineous families or isolated populations …
recessive conditions, especially in consanguineous families or isolated populations …
Quantifying temporal genomic erosion in endangered species
Many species have undergone dramatic population size declines over the past centuries.
Although stochastic genetic processes during and after such declines are thought to elevate …
Although stochastic genetic processes during and after such declines are thought to elevate …
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
D Del Gaudio, M Shinawi, C Astbury, MK Tayeh… - Genetics in …, 2020 - nature.com
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
test, whether or not it is in conformance with this statement. Clinicians also are advised to …